Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Lipid A is the biologically active component of lipopolysaccharides. It shows strong endotoxic activity and exhibits immunogenic properties.
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Inborn errors of purine-pyrimidine metabolism refer to genetic disorders resulting from defects in the enzymes responsible for the metabolic breakdown and synthesis of purines and pyrimidines, leading to the accumulation of toxic metabolites or deficiency of necessary nucleotides, causing various clinical manifestations such as neurological impairment, kidney problems, and developmental delays.
Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Inborn errors of carbohydrate metabolism are genetic disorders that result from enzyme deficiencies or transport defects in the metabolic pathways responsible for breaking down and processing carbohydrates, leading to accumulation of toxic intermediates or energy deficits, and typically presenting with multisystem clinical manifestations.
The chemical reactions involved in the production and utilization of various forms of energy in cells.
Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)
Layers of lipid molecules which are two molecules thick. Bilayer systems are frequently studied as models of biological membranes.
Triglycerides are the most common type of fat in the body, stored in fat cells and used as energy; they are measured in blood tests to assess heart disease risk, with high levels often resulting from dietary habits, obesity, physical inactivity, smoking, and alcohol consumption.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Peroxidase catalyzed oxidation of lipids using hydrogen peroxide as an electron acceptor.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides see GLYCEROPHOSPHOLIPIDS) or sphingosine (SPHINGOLIPIDS). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An infant during the first month after birth.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.
Peroxides produced in the presence of a free radical by the oxidation of unsaturated fatty acids in the cell in the presence of molecular oxygen. The formation of lipid peroxides results in the destruction of the original lipid leading to the loss of integrity of the membranes. They therefore cause a variety of toxic effects in vivo and their formation is considered a pathological process in biological systems. Their formation can be inhibited by antioxidants, such as vitamin E, structural separation or low oxygen tension.
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.
Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
FATTY ACIDS found in the plasma that are complexed with SERUM ALBUMIN for transport. These fatty acids are not in glycerol ester form.
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.
A territory of Australia consisting of Canberra, the national capital and surrounding land. It lies geographically within NEW SOUTH WALES and was established by law in 1988.
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. Defects in the enzyme, is associated with isovaleric acidemia (IVA).
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Glucose in blood.
Fats present in food, especially in animal products such as meat, meat products, butter, ghee. They are present in lower amounts in nuts, seeds, and avocados.
A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR GAMMA is important to metabolism of LIPIDS. It is the target of FIBRATES to control HYPERLIPIDEMIAS.
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
Elements of limited time intervals, contributing to particular results or situations.
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Pentanoic acid, also known as valeric acid, is a carboxylic acid with a 5-carbon chain (C5H10O2), having a distinctive pungent and rancid odor, found in some animals' sweat, certain foods, and produced through wood fermentation.
Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).
A subclass of enzymes which includes all dehydrogenases acting on carbon-carbon bonds. This enzyme group includes all the enzymes that introduce double bonds into substrates by direct dehydrogenation of carbon-carbon single bonds.
The metabolic process of breaking down LIPIDS to release FREE FATTY ACIDS, the major oxidative fuel for the body. Lipolysis may involve dietary lipids in the DIGESTIVE TRACT, circulating lipids in the BLOOD, and stored lipids in the ADIPOSE TISSUE or the LIVER. A number of enzymes are involved in such lipid hydrolysis, such as LIPASE and LIPOPROTEIN LIPASE from various tissues.
Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.
An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Inborn errors of metal metabolism refer to genetic disorders resulting from mutations in genes encoding proteins involved in the transportation, storage, or utilization of essential metals, leading to imbalances that can cause toxicity or deficiency and subsequent impairment of normal physiological processes.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A sterol regulatory element binding protein that regulates expression of GENES involved in FATTY ACIDS metabolism and LIPOGENESIS. Two major isoforms of the protein exist due to ALTERNATIVE SPLICING.
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
De novo fat synthesis in the body. This includes the synthetic processes of FATTY ACIDS and subsequent TRIGLYCERIDES in the LIVER and the ADIPOSE TISSUE. Lipogenesis is regulated by numerous factors, including nutritional, hormonal, and genetic elements.
Glutarates are organic compounds, specifically carboxylic acids, that contain a five-carbon chain with two terminal carboxyl groups and a central methyl group, playing a role in various metabolic processes, including the breakdown of certain amino acids. They can also refer to their salts or esters. Please note that this definition is concise and may not cover all aspects of glutarates in depth.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to a choline moiety. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid and choline and 2 moles of fatty acids.
An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.
Intracellular receptors that can be found in the cytoplasm or in the nucleus. They bind to extracellular signaling molecules that migrate through or are transported across the CELL MEMBRANE. Many members of this class of receptors occur in the cytoplasm and are transported to the CELL NUCLEUS upon ligand-binding where they signal via DNA-binding and transcription regulation. Also included in this category are receptors found on INTRACELLULAR MEMBRANES that act via mechanisms similar to CELL SURFACE RECEPTORS.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Conditions with excess LIPIDS in the blood.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.
Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34.
A condition of substandard growth or diminished capacity to maintain normal function.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A broad category of receptor-like proteins that may play a role in transcriptional-regulation in the CELL NUCLEUS. Many of these proteins are similar in structure to known NUCLEAR RECEPTORS but appear to lack a functional ligand-binding domain, while in other cases the specific ligands have yet to be identified.
Cells in the body that store FATS, usually in the form of TRIGLYCERIDES. WHITE ADIPOCYTES are the predominant type and found mostly in the abdominal cavity and subcutaneous tissue. BROWN ADIPOCYTES are thermogenic cells that can be found in newborns of some species and hibernating mammals.
An NAD-dependent 3-hydroxyacyl CoA dehydrogenase that has specificity for acyl chains containing 8 and 10 carbons.
Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.
A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
The rate dynamics in chemical or physical systems.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Regular course of eating and drinking adopted by a person or animal.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Derivatives of ACETIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxymethane structure.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
The processes whereby the internal environment of an organism tends to remain balanced and stable.
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
The main structural component of the LIVER. They are specialized EPITHELIAL CELLS that are organized into interconnected plates called lobules.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.
Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.
An individual in which both alleles at a given locus are identical.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
Consumption of excessive DIETARY FATS.
Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)
Detergent-insoluble CELL MEMBRANE components. They are enriched in SPHINGOLIPIDS and CHOLESTEROL and clustered with glycosyl-phosphatidylinositol (GPI)-anchored proteins.
A mass spectrometry technique using two (MS/MS) or more mass analyzers. With two in tandem, the precursor ions are mass-selected by a first mass analyzer, and focused into a collision region where they are then fragmented into product ions which are then characterized by a second mass analyzer. A variety of techniques are used to separate the compounds, ionize them, and introduce them to the first mass analyzer. For example, for in GC-MS/MS, GAS CHROMATOGRAPHY-MASS SPECTROMETRY is involved in separating relatively small compounds by GAS CHROMATOGRAPHY prior to injecting them into an ionization chamber for the mass selection.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
An enzyme that, in the course of purine ribonucleotide biosynthesis, catalyzes the conversion of 5'-phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole to 5'-phosphoribosyl-4-carboxamide-5-aminoimidazole and the conversion of adenylosuccinic acid to AMP. EC 4.3.2.2.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, and sweetening agent.
TRANSCRIPTION FACTORS that are activated by ligands and heterodimerize with RETINOID X RECEPTORS and bind to peroxisome proliferator response elements in the promoter regions of target genes.
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.
Abstaining from all food.
A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.
Sterol regulatory element binding proteins are basic helix-loop-helix leucine zipper transcription factors that bind the sterol regulatory element TCACNCCAC. They are synthesized as precursors that are threaded into the MEMBRANES of the ENDOPLASMIC RETICULUM.
Closed vesicles of fragmented endoplasmic reticulum created when liver cells or tissue are disrupted by homogenization. They may be smooth or rough.
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
FATTY ACIDS in which the carbon chain contains one or more double or triple carbon-carbon bonds.
An unsaturated fatty acid that is the most widely distributed and abundant fatty acid in nature. It is used commercially in the preparation of oleates and lotions, and as a pharmaceutical solvent. (Stedman, 26th ed)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.
A metabolic process that converts GLUCOSE into two molecules of PYRUVIC ACID through a series of enzymatic reactions. Energy generated by this process is conserved in two molecules of ATP. Glycolysis is the universal catabolic pathway for glucose, free glucose, or glucose derived from complex CARBOHYDRATES, such as GLYCOGEN and STARCH.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
A superfamily of hundreds of closely related HEMEPROTEINS found throughout the phylogenetic spectrum, from animals, plants, fungi, to bacteria. They include numerous complex monooxygenases (MIXED FUNCTION OXYGENASES). In animals, these P-450 enzymes serve two major functions: (1) biosynthesis of steroids, fatty acids, and bile acids; (2) metabolism of endogenous and a wide variety of exogenous substrates, such as toxins and drugs (BIOTRANSFORMATION). They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). For example, enzymes from the CYP1, CYP2, and CYP3 gene families are responsible for most drug metabolism.
Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.
The consumption of edible substances.
The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.
Fatty tissue composed of WHITE ADIPOCYTES and generally found directly under the skin (SUBCUTANEOUS FAT) and around the internal organs (ABDOMINAL FAT). It has less vascularization and less coloration than the BROWN FAT. White fat provides heat insulation, mechanical cushion, and source of energy.
Substances that lower the levels of certain LIPIDS in the BLOOD. They are used to treat HYPERLIPIDEMIAS.
A diet that contains limited amounts of protein. It is prescribed in some cases to slow the progression of renal failure. (From Segen, Dictionary of Modern Medicine, 1992)
Established cell cultures that have the potential to propagate indefinitely.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
A class of lipoproteins of very light (0.93-1.006 g/ml) large size (30-80 nm) particles with a core composed mainly of TRIGLYCERIDES and a surface monolayer of PHOSPHOLIPIDS and CHOLESTEROL into which are imbedded the apolipoproteins B, E, and C. VLDL facilitates the transport of endogenously made triglycerides to extrahepatic tissues. As triglycerides and Apo C are removed, VLDL is converted to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LOW-DENSITY LIPOPROTEINS from which cholesterol is delivered to the extrahepatic tissues.
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.
Stable carbon atoms that have the same atomic number as the element carbon, but differ in atomic weight. C-13 is a stable carbon isotope.
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
The chemical alteration of an exogenous substance by or in a biological system. The alteration may inactivate the compound or it may result in the production of an active metabolite of an inactive parent compound. The alterations may be divided into METABOLIC DETOXICATION, PHASE I and METABOLIC DETOXICATION, PHASE II.
Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.
An amino acid produced in the urea cycle by the splitting off of urea from arginine.
An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.
A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR ALPHA is important in regulation of GLUCOSE metabolism and CELL GROWTH PROCESSES. It is a target of THIAZOLIDINEDIONES for control of DIABETES MELLITUS.
Transport proteins that carry specific substances in the blood or across cell membranes.
A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.
A group of fatty acids that contain 18 carbon atoms and a double bond at the omega 9 carbon.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Steroids with a hydroxyl group at C-3 and most of the skeleton of cholestane. Additional carbon atoms may be present in the side chain. (IUPAC Steroid Nomenclature, 1987)
The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)
A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.
The measurement of an organ in volume, mass, or heaviness.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
An enzyme that catalyzes the cyclization of hydroxymethylbilane to yield UROPORPHYRINOGEN III and water. It is the fourth enzyme in the 8-enzyme biosynthetic pathway of HEME, and is encoded by UROS gene. Mutations of UROS gene result in CONGENITAL ERYTHROPOIETIC PORPHYRIA.
A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations or by parent x offspring matings carried out with certain restrictions. This also includes animals with a long history of closed colony breeding.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. EC 2.3.1.21.
A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
The relationship between the dose of an administered drug and the response of the organism to the drug.
An enzyme that catalyzes the first and rate-determining steps of peroxisomal beta-oxidation of fatty acids. It acts on COENZYME A derivatives of fatty acids with chain lengths from 8 to 18, using FLAVIN-ADENINE DINUCLEOTIDE as a cofactor.
Schedules of medical and nursing procedures, including diagnostic tests, medications, and consultations designed to effect an efficient, coordinated program of treatment. (From Mosby's Medical, Nursing & Allied Health Dictionary, 4th ed)
S-Acyl coenzyme A. Fatty acid coenzyme A derivatives that are involved in the biosynthesis and oxidation of fatty acids as well as in ceramide formation.
An enzyme that catalyzes the hydrolysis of CHOLESTEROL ESTERS and some other sterol esters, to liberate cholesterol plus a fatty acid anion.
An individual having different alleles at one or more loci regarding a specific character.
Diglycerides are a type of glyceride, specifically a form of lipid, that contains two fatty acid chains linked to a glycerol molecule by ester bonds.
The taking of a blood sample to determine its character as a whole, to identify levels of its component cells, chemicals, gases, or other constituents, to perform pathological examination, etc.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
The most abundant protein component of HIGH DENSITY LIPOPROTEINS or HDL. This protein serves as an acceptor for CHOLESTEROL released from cells thus promoting efflux of cholesterol to HDL then to the LIVER for excretion from the body (reverse cholesterol transport). It also acts as a cofactor for LECITHIN CHOLESTEROL ACYLTRANSFERASE that forms CHOLESTEROL ESTERS on the HDL particles. Mutations of this gene APOA1 cause HDL deficiency, such as in FAMILIAL ALPHA LIPOPROTEIN DEFICIENCY DISEASE and in some patients with TANGIER DISEASE.
LIPOLYSIS of stored LIPIDS in the ADIPOSE TISSUE to release FREE FATTY ACIDS. Mobilization of stored lipids is under the regulation of lipolytic signals (CATECHOLAMINES) or anti-lipolytic signals (INSULIN) via their actions on the hormone-sensitive LIPASE. This concept does not include lipid transport.
Enzymes that catalyze the synthesis of FATTY ACIDS from acetyl-CoA and malonyl-CoA derivatives.
The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.

Extremely low values of serum leptin in children with congenital generalized lipoatrophy. (1/298)

Congenital generalized lipoatrophy (CGL) is a syndrome with multiple clinical manifestations and complete atrophy of adipose tissue. The exact mechanism of this disease remains unknown. One hypothesis presupposes an abnormal development of adipocytes. Leptin, the adipocyte-specific product of the ob gene, acts as a regulatory factor of body weight. In children, as in adults, leptin levels are correlated with body mass index (BMI) and body fat mass. Some authors have demonstrated that adults with congenital or acquired generalized lipoatrophy have decreased leptin concentrations. In order to study serum leptin profile during childhood in this disease, we measured serum leptin concentrations in six children aged 5.5-11 years suffering from CGL, and investigated the relationship between metabolic parameters and the variations in leptin levels. Serum leptin concentrations (1.19+/-0.32 ng/ml (+/- S.D.)) were extremely low compared with those observed in normal children. No significant correlation was found with BMI, which is known to be one of the major determinants of serum leptin. Serum leptin values were significantly correlated with fasting insulin levels (r=0.83, P=0.024). In conclusion, extremely low leptin values measured in children with CGL could be regarded as one among other diagnostic parameters. However, the detectable levels observed in all of these children support the evidence that a small amount of body fat is likely to be present in these patients, despite complete subcutaneous lipoatrophy. Our data suggest that this small amount of adipose tissue could be metabolically active and, at least in part, sensitive to insulin. Further investigations are required to uncover the pathophysiological mechanisms of this syndrome, known to be commonly associated with insulin resistance.  (+info)

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. (2/298)

BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis. OBJECTIVE: To investigate the outcome of MCAD deficiency after the diagnosis has been established. METHOD: All patients with a proved diagnosis of MCAD deficiency attending one centre in a four year period were reviewed. RESULTS: Forty one patients were identified. Follow up was for a median of 6.7 years (range, 9 months to 14 years). Nearly half of the patients were admitted to hospital with symptoms characteristic of MCAD deficiency before the correct diagnosis was made. After diagnosis, two patients were admitted to hospital with severe encephalopathy but there were no additional deaths or appreciable morbidity. There was a high incidence (about one fifth) of previous sibling deaths among the cohort. CONCLUSIONS: Undiagnosed, MCAD deficiency results in considerable mortality and morbidity. However, current management improves outcome, supporting the view that the disorder should be included in newborn screening programmes.  (+info)

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. (3/298)

Current dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxido-reductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various dietary manipulations on plasma and urinary laboratory values in a child with LCHADD. In our patient, a diet restricted to 9% of total energy from long-chain fatty acids and administration of 1.5 g medium-chain triglyceride oil per kg body weight normalized plasma acylcarnitine and lactate levels, but dicarboxylic acid excretion remained approximately ten times normal. Plasma docosahexaenoic acid (DHA, 22:6n-3) was consistently low over a 2-year period; DHA deficiency may be related to the development of pigmentary retinopathy seen in this patient population. We also conducted a survey of metabolic physicians who treat children with LCHADD to determine current dietary interventions employed and the effects of these interventions on symptoms of this disease. Survey results indicate that a diet low in long-chain fatty acids, supplemented with medium-chain triclyceride oil, decreased the incidence of hypoketotic hypoglycaemia, and improved hypotonia, hepatomegaly, cardiomyopathy, and lactic acidosis. However, dietary treatment did not appear to effect peripheral neuropathy, pigmentary retinopathy or myoglobinuria.  (+info)

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. (4/298)

BACKGROUND: Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase. This enzyme resides in the mitochondrial trifunctional protein, which also contains the active site of long-chain 2,3-enoyl-CoA hydratase and long-chain 3-ketoacyl-CoA thiolase. We undertook this study to determine the relation between mutations in the trifunctional protein in infants with defects in fatty-acid oxidation and acute liver disease during pregnancy in their mothers. METHODS: In 24 children with 3-hydroxyacyl-CoA dehydrogenase deficiency, we used DNA amplification and nucleotide-sequence analyses to identify mutations in the alpha subunit of the trifunctional protein. We then correlated the results with the presence of liver disease during pregnancy in the mothers. RESULTS: Nineteen children had a deficiency only of long-chain 3-hydroxyacyl-CoA dehydrogenase and presented with hypoketotic hypoglycemia and fatty liver. In eight children, we identified a homozygous mutation in which glutamic acid at residue 474 was changed to glutamine. Eleven other children were compound heterozygotes, with this mutation in one allele of the alpha-subunit gene and a different mutation in the other allele. While carrying fetuses with the Glu474Gln mutation, 79 percent of the heterozygous mothers had fatty liver of pregnancy or the HELLP syndrome. Five other children, who presented with neonatal dilated cardiomyopathy or progressive neuromyopathy, had complete deficiency of the trifunctional protein (loss of activity of all three enzymes). None had the Glu474Gln mutation, and none of their mothers had liver disease during pregnancy. CONCLUSIONS: Women with acute liver disease during pregnancy may have a Glu474Gln mutation in long-chain hydroxyacyl-CoA dehydrogenase. Their infants are at risk for hypoketotic hypoglycemia and fatty liver.  (+info)

Mobilisation of triacylglycerol stores. (5/298)

Triacylglycerol (TAG) is an energy dense substance which is stored by several body tissues, principally adipose tissue and the liver. Utilisation of stored TAG as an energy source requires its mobilisation from these depots and transfer into the blood plasma. The means by which TAG is mobilised differs in adipose tissue and liver although the regulation of lipid metabolism in each of these organs is interdependent and synchronised in an integrated manner. This review deals principally with the mechanism of hepatic TAG mobilisation since this is a rapidly expanding area of research and may have important implications for the regulation of plasma very-low-density lipoprotein metabolism. TAG mobilisation plays an important role in fuel selection in non-hepatic tissues such as cardiac muscle and pancreatic islets and these aspects are also reviewed briefly. Finally, studies of certain rare inherited disorders of neutral lipid storage and mobilisation may provide useful information about the normal enzymology of TAG mobilisation in healthy tissues.  (+info)

Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. (6/298)

BACKGROUND: Disorders of fatty acid oxidation (FAO) are difficult to diagnose, primarily because in many of the FAO disorders measurable biochemical intermediates accumulate in body fluids only during acute illness. Increased concentrations of 3-hydroxy-fatty acids (3-OH-FAs) in the blood are indicative of FAO disorders of the long- and short-chain 3-hydroxy-acyl-CoA dehydrogenases, LCHAD and SCHAD. We describe a serum/plasma assay for the measurement of 3-OH-FAs with carbon chain lengths from C(6) to C(16). METHODS: We used stable isotope dilution gas chromatography-mass spectrometry (GC-MS) with electron impact ionization and selected ion monitoring. Natural and isotope-labeled compounds were synthesized for the assay. RESULTS: The assay was linear from 0.2 to 50 micromol/L for all six 3-OH-FAs. CVs were 5-15% at concentrations near the upper limits seen in healthy subjects. In 43 subjects, the medians (and ranges) in micromol/L were as follows: 3-OH-C(6), 0.8 (0.3-2.2); 3-OH-C(8), 0.4 (0.2-1.0); 3-OH-C(10), 0.3 (0.2-0.6); 3-OH-C(12), 0.3 (0.2-0.6); 3-OH-C(14), 0.2 (0.0-0.4); and 3-OH-C(16), 0.2 (0.0-0.5). 3-OH-FAs were increased in infants receiving formula containing medium chain triglycerides. Two patients diagnosed with LCHAD deficiency showed marked increases in 3-OH-C(14) and 3-OH-C(16) concentrations. Two patients diagnosed with SCHAD deficiency showed increased shorter chain 3-OH-FAs but no increases in 3-OH-C(14) to 3-OH-C(16). CONCLUSION: Measuring blood concentrations of the 3-OH-FAs with this assay may be a valuable tool for helping to rapidly identify deficiencies in LCHAD and SCHAD and may also provide useful information about the status of the FAO pathway.  (+info)

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (7/298)

BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations. MATERIALS AND METHODS: Genomic DNA was isolated from affected males and/or carrier females from 30 unrelated families with Fabry disease. The entire alpha-Gal A coding region and flanking intronic sequences were analyzed by PCR amplification and automated sequencing. RESULTS: Twenty new mutations were identified, each in a single family: C142R, G183D, S235C, W236L, D244H, P259L, M267I, I289F, Q321E, C378Y, C52X, W277X, IVS4(+4), IVS6(+2), IVS6(-1), 35del13, 256del1, 892ins1, 1176del4, and 1188del1. In the remaining 10 unrelated Fabry families, 9 previously reported mutations were detected: M42V, R112C, S148R, D165V, N215S (in 2 families), Q99X, C142X, R227X, and 1072del3. Haplotype analysis using markers closely flanking the alpha-Gal A gene indicated that the two patients with the N215S lesion were unrelated. The IVS4(+4) mutation was a rare intronic splice site mutation that causes Fabry disease. CONCLUSIONS: These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease. +info)

Unique electroencephalographic change of acute encephalopathy in glutaric aciduria type 1. (8/298)

We report the peculiar serial electroencephalographic (EEG) findings in a 7-year-old boy with glutaric aciduria type 1 during an episode of acute encephalopathy. The patient developed Reye-like syndrome triggered by cellulitis. Cranial magnetic resonance imaging demonstrated diffuse softening of cerebral hemisphere. The EEG on the day following onset of acute encephalopathy showed suppression burst pattern including continuous 14-15 Hz rhythmic waves at first. Then, periodic synchronous discharge appeared and lasted for about 40 minutes. Periodic synchronous discharge finally disappeared and nearly total electrocerebral silence continued. There have been no reports indicating such a change of EEG in a short period. The serial EEG changes probably reflect the process of electrical death of neurons in cerebral hemispheres.  (+info)

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

Lipid metabolism is the process by which the body breaks down and utilizes lipids (fats) for various functions, such as energy production, cell membrane formation, and hormone synthesis. This complex process involves several enzymes and pathways that regulate the digestion, absorption, transport, storage, and consumption of fats in the body.

The main types of lipids involved in metabolism include triglycerides, cholesterol, phospholipids, and fatty acids. The breakdown of these lipids begins in the digestive system, where enzymes called lipases break down dietary fats into smaller molecules called fatty acids and glycerol. These molecules are then absorbed into the bloodstream and transported to the liver, which is the main site of lipid metabolism.

In the liver, fatty acids may be further broken down for energy production or used to synthesize new lipids. Excess fatty acids may be stored as triglycerides in specialized cells called adipocytes (fat cells) for later use. Cholesterol is also metabolized in the liver, where it may be used to synthesize bile acids, steroid hormones, and other important molecules.

Disorders of lipid metabolism can lead to a range of health problems, including obesity, diabetes, cardiovascular disease, and non-alcoholic fatty liver disease (NAFLD). These conditions may be caused by genetic factors, lifestyle habits, or a combination of both. Proper diagnosis and management of lipid metabolism disorders typically involves a combination of dietary changes, exercise, and medication.

Lipids are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. They include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids. Lipids serve many important functions in the body, including energy storage, acting as structural components of cell membranes, and serving as signaling molecules. High levels of certain lipids, particularly cholesterol and triglycerides, in the blood are associated with an increased risk of cardiovascular disease.

Inborn errors of amino acid metabolism refer to genetic disorders that affect the body's ability to properly break down and process individual amino acids, which are the building blocks of proteins. These disorders can result in an accumulation of toxic levels of certain amino acids or their byproducts in the body, leading to a variety of symptoms and health complications.

There are many different types of inborn errors of amino acid metabolism, each affecting a specific amino acid or group of amino acids. Some examples include:

* Phenylketonuria (PKU): This disorder affects the breakdown of the amino acid phenylalanine, leading to its accumulation in the body and causing brain damage if left untreated.
* Maple syrup urine disease: This disorder affects the breakdown of the branched-chain amino acids leucine, isoleucine, and valine, leading to their accumulation in the body and causing neurological problems.
* Homocystinuria: This disorder affects the breakdown of the amino acid methionine, leading to its accumulation in the body and causing a range of symptoms including developmental delay, intellectual disability, and cardiovascular problems.

Treatment for inborn errors of amino acid metabolism typically involves dietary restrictions or supplementation to manage the levels of affected amino acids in the body. In some cases, medication or other therapies may also be necessary. Early diagnosis and treatment can help prevent or minimize the severity of symptoms and health complications associated with these disorders.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

Lipid A is the biologically active component of lipopolysaccharides (LPS), which are found in the outer membrane of Gram-negative bacteria. It is responsible for the endotoxic activity of LPS and plays a crucial role in the pathogenesis of gram-negative bacterial infections. Lipid A is a glycophosphatidylinositol (GPI) anchor, consisting of a glucosamine disaccharide backbone with multiple fatty acid chains and phosphate groups attached to it. It can induce the release of proinflammatory cytokines, fever, and other symptoms associated with sepsis when introduced into the bloodstream.

Inborn errors of steroid metabolism refer to genetic disorders that affect the synthesis or degradation of steroid hormones in the body. Steroids are a group of hormones that include cortisol, aldosterone, sex hormones (estrogens and androgens), and bile acids. These hormones are produced through a series of biochemical reactions called steroidogenesis, which involves several enzymes.

Inborn errors of steroid metabolism occur when there is a mutation in the gene encoding for one or more of these enzymes, leading to impaired steroid synthesis or degradation. This can result in an accumulation of abnormal steroid metabolites or deficiency of essential steroid hormones, causing various clinical manifestations depending on the specific steroid hormone affected and the severity of the enzyme deficiency.

Examples of inborn errors of steroid metabolism include congenital adrenal hyperplasia (CAH), which is caused by defects in the genes encoding for enzymes involved in cortisol synthesis, such as 21-hydroxylase and 11-beta-hydroxylase. CAH can lead to impaired cortisol production, increased production of androgens, and abnormal genital development in affected individuals.

Another example is lipoid congenital adrenal hyperplasia (LCAH), which is caused by a deficiency in the enzyme steroidogenic acute regulatory protein (StAR). LCAH results in impaired transport of cholesterol into the mitochondria, leading to deficient synthesis of all steroid hormones and accumulation of lipids in the adrenal glands.

Inborn errors of steroid metabolism can be diagnosed through various tests, including blood and urine tests to measure steroid levels and genetic testing to identify mutations in the relevant genes. Treatment typically involves replacement therapy with the deficient hormones or inhibition of excessive hormone production.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

Inborn errors of purine-pyrimidine metabolism refer to genetic disorders that result in dysfunctional enzymes involved in the metabolic pathways of purines and pyrimidines. These are essential components of nucleotides, which in turn are building blocks of DNA and RNA.

Inherited as autosomal recessive or X-linked recessive traits, these disorders can lead to an accumulation of toxic metabolites, a deficiency of necessary compounds, or both. Clinical features vary widely depending on the specific enzyme defect but may include neurologic symptoms, kidney problems, gout, and/or immunodeficiency.

Examples of such disorders include Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase), adenosine deaminase deficiency (leading to severe combined immunodeficiency), and orotic aciduria (due to defects in pyrimidine metabolism). Early diagnosis and management are crucial to improve outcomes.

Lipid metabolism disorders are a group of conditions that result from abnormalities in the breakdown, transport, or storage of lipids (fats) in the body. These disorders can lead to an accumulation of lipids in various tissues and organs, causing them to function improperly.

There are several types of lipid metabolism disorders, including:

1. Hyperlipidemias: These are conditions characterized by high levels of cholesterol or triglycerides in the blood. They can increase the risk of cardiovascular disease and pancreatitis.
2. Hypercholesterolemia: This is a condition characterized by high levels of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, in the blood. It can increase the risk of cardiovascular disease.
3. Hypocholesterolemias: These are conditions characterized by low levels of cholesterol in the blood. Some of these disorders may be associated with an increased risk of cancer and neurological disorders.
4. Hypertriglyceridemias: These are conditions characterized by high levels of triglycerides in the blood. They can increase the risk of pancreatitis and cardiovascular disease.
5. Lipodystrophies: These are conditions characterized by abnormalities in the distribution of body fat, which can lead to metabolic abnormalities such as insulin resistance, diabetes, and high levels of triglycerides.
6. Disorders of fatty acid oxidation: These are conditions that affect the body's ability to break down fatty acids for energy, leading to muscle weakness, liver dysfunction, and in some cases, life-threatening neurological complications.

Lipid metabolism disorders can be inherited or acquired, and their symptoms and severity can vary widely depending on the specific disorder and the individual's overall health status. Treatment may include lifestyle changes, medications, and dietary modifications to help manage lipid levels and prevent complications.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Inborn errors of carbohydrate metabolism refer to genetic disorders that affect the body's ability to break down and process carbohydrates, which are sugars and starches that provide energy for the body. These disorders are caused by defects in enzymes or transport proteins that play a critical role in the metabolic pathways involved in carbohydrate metabolism.

There are several types of inborn errors of carbohydrate metabolism, including:

1. Galactosemia: This disorder affects the body's ability to metabolize the sugar galactose, which is found in milk and other dairy products. It is caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase.
2. Glycogen storage diseases: These disorders affect the body's ability to store and break down glycogen, which is a complex carbohydrate that serves as a source of energy for the body. There are several types of glycogen storage diseases, each caused by a deficiency in a different enzyme involved in glycogen metabolism.
3. Hereditary fructose intolerance: This disorder affects the body's ability to metabolize the sugar fructose, which is found in fruits and sweeteners. It is caused by a deficiency of the enzyme aldolase B.
4. Pentose phosphate pathway disorders: These disorders affect the body's ability to metabolize certain sugars and generate energy through the pentose phosphate pathway. They are caused by defects in enzymes involved in this pathway.

Symptoms of inborn errors of carbohydrate metabolism can vary widely depending on the specific disorder and its severity. Treatment typically involves dietary restrictions, supplementation with necessary enzymes or cofactors, and management of complications. In some cases, enzyme replacement therapy or even organ transplantation may be considered.

Energy metabolism is the process by which living organisms produce and consume energy to maintain life. It involves a series of chemical reactions that convert nutrients from food, such as carbohydrates, fats, and proteins, into energy in the form of adenosine triphosphate (ATP).

The process of energy metabolism can be divided into two main categories: catabolism and anabolism. Catabolism is the breakdown of nutrients to release energy, while anabolism is the synthesis of complex molecules from simpler ones using energy.

There are three main stages of energy metabolism: glycolysis, the citric acid cycle (also known as the Krebs cycle), and oxidative phosphorylation. Glycolysis occurs in the cytoplasm of the cell and involves the breakdown of glucose into pyruvate, producing a small amount of ATP and nicotinamide adenine dinucleotide (NADH). The citric acid cycle takes place in the mitochondria and involves the further breakdown of pyruvate to produce more ATP, NADH, and carbon dioxide. Oxidative phosphorylation is the final stage of energy metabolism and occurs in the inner mitochondrial membrane. It involves the transfer of electrons from NADH and other electron carriers to oxygen, which generates a proton gradient across the membrane. This gradient drives the synthesis of ATP, producing the majority of the cell's energy.

Overall, energy metabolism is a complex and essential process that allows organisms to grow, reproduce, and maintain their bodily functions. Disruptions in energy metabolism can lead to various diseases, including diabetes, obesity, and neurodegenerative disorders.

Fatty acids are carboxylic acids with a long aliphatic chain, which are important components of lipids and are widely distributed in living organisms. They can be classified based on the length of their carbon chain, saturation level (presence or absence of double bonds), and other structural features.

The two main types of fatty acids are:

1. Saturated fatty acids: These have no double bonds in their carbon chain and are typically solid at room temperature. Examples include palmitic acid (C16:0) and stearic acid (C18:0).
2. Unsaturated fatty acids: These contain one or more double bonds in their carbon chain and can be further classified into monounsaturated (one double bond) and polyunsaturated (two or more double bonds) fatty acids. Examples of unsaturated fatty acids include oleic acid (C18:1, monounsaturated), linoleic acid (C18:2, polyunsaturated), and alpha-linolenic acid (C18:3, polyunsaturated).

Fatty acids play crucial roles in various biological processes, such as energy storage, membrane structure, and cell signaling. Some essential fatty acids cannot be synthesized by the human body and must be obtained through dietary sources.

A lipid bilayer is a thin membrane made up of two layers of lipid molecules, primarily phospholipids. The hydrophilic (water-loving) heads of the lipids face outwards, coming into contact with watery environments on both sides, while the hydrophobic (water-fearing) tails point inward, away from the aqueous surroundings. This unique structure allows lipid bilayers to form a stable barrier that controls the movement of molecules and ions in and out of cells and organelles, thus playing a crucial role in maintaining cellular compartmentalization and homeostasis.

Triglycerides are the most common type of fat in the body, and they're found in the food we eat. They're carried in the bloodstream to provide energy to the cells in our body. High levels of triglycerides in the blood can increase the risk of heart disease, especially in combination with other risk factors such as high LDL (bad) cholesterol, low HDL (good) cholesterol, and high blood pressure.

It's important to note that while triglycerides are a type of fat, they should not be confused with cholesterol, which is a waxy substance found in the cells of our body. Both triglycerides and cholesterol are important for maintaining good health, but high levels of either can increase the risk of heart disease.

Triglyceride levels are measured through a blood test called a lipid panel or lipid profile. A normal triglyceride level is less than 150 mg/dL. Borderline-high levels range from 150 to 199 mg/dL, high levels range from 200 to 499 mg/dL, and very high levels are 500 mg/dL or higher.

Elevated triglycerides can be caused by various factors such as obesity, physical inactivity, excessive alcohol consumption, smoking, and certain medical conditions like diabetes, hypothyroidism, and kidney disease. Medications such as beta-blockers, steroids, and diuretics can also raise triglyceride levels.

Lifestyle changes such as losing weight, exercising regularly, eating a healthy diet low in saturated and trans fats, avoiding excessive alcohol consumption, and quitting smoking can help lower triglyceride levels. In some cases, medication may be necessary to reduce triglycerides to recommended levels.

Inborn urea cycle disorders (UCDs) are a group of rare genetic metabolic disorders caused by deficiencies in one of the enzymes or transporters that make up the urea cycle. The urea cycle is a series of biochemical reactions that occur in liver cells, responsible for removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream.

In UCDs, the impaired function of these enzymes or transporters leads to an accumulation of ammonia in the blood (hyperammonemia), which can cause irreversible brain damage and severe neurological symptoms if left untreated. These disorders are usually inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

There are six main types of UCDs, classified based on the specific enzyme or transporter deficiency:

1. Carbamoyl phosphate synthetase I (CPS1) deficiency
2. Ornithine transcarbamylase (OTC) deficiency
3. Argininosuccinic aciduria (ASA)
4. Citrullinemia type I or II (CTLN1, CTLN2)
5. Arginase deficiency
6. N-acetylglutamate synthetase (NAGS) deficiency

Symptoms of UCDs can vary widely depending on the severity and specific type of the disorder but may include:

* Vomiting
* Lethargy or irritability
* Seizures
* Tremors or seizure-like activity
* Developmental delays or intellectual disability
* Coma

Early diagnosis and treatment are crucial to prevent long-term neurological damage. Treatment options include dietary restrictions, medications that help remove ammonia from the body, and liver transplantation in severe cases. Regular monitoring of blood ammonia levels and other metabolic markers is essential for managing UCDs effectively.

Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.

Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.

High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.

It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.

Metabolic brain diseases are a group of disorders caused by genetic defects that affect the body's metabolism and result in abnormal accumulation of harmful substances in the brain. These conditions are present at birth (inborn) or develop during infancy or early childhood. Examples of metabolic brain diseases that are present at birth include:

1. Phenylketonuria (PKU): A disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to an accumulation of phenylalanine in the brain and can cause intellectual disability, seizures, and behavioral problems if left untreated.
2. Maple syrup urine disease (MSUD): A disorder caused by a deficiency of the enzyme branched-chain ketoacid dehydrogenase, which leads to an accumulation of branched-chain amino acids in the body and can cause intellectual disability, seizures, and metabolic crisis if left untreated.
3. Urea cycle disorders: A group of disorders caused by defects in enzymes that help remove ammonia from the body. Accumulation of ammonia in the blood can lead to brain damage, coma, or death if not treated promptly.
4. Organic acidemias: A group of disorders caused by defects in enzymes that help break down certain amino acids and other organic compounds. These conditions can cause metabolic acidosis, seizures, and developmental delays if left untreated.

Early diagnosis and treatment of these conditions are crucial to prevent irreversible brain damage and other complications. Treatment typically involves dietary restrictions, supplements, and medications to manage the underlying metabolic imbalance. In some cases, enzyme replacement therapy or liver transplantation may be necessary.

Argininosuccinic aciduria (ASA) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is necessary for the urea cycle, a process that helps rid the body of excess nitrogen produced from protein breakdown. When the urea cycle is not functioning properly, nitrogen accumulates in the form of ammonia, which can be toxic to the brain and other organs.

In ASA, argininosuccinic acid builds up in the blood and urine, giving the condition its name. Symptoms of ASA typically appear within the first few days or weeks of life and may include poor feeding, vomiting, lethargy, seizures, and developmental delay. If left untreated, ASA can lead to serious complications such as intellectual disability, coma, and even death.

Treatment for ASA usually involves a combination of dietary restrictions, medications to reduce ammonia levels, and supplementation with arginine, an amino acid that is not properly metabolized in people with ASA. In some cases, liver transplantation may be necessary. Early diagnosis and treatment are crucial for improving outcomes in individuals with ASA.

Hyperammonemia is a medical condition characterized by an excessively high level of ammonia (a toxic byproduct of protein metabolism) in the blood. This can lead to serious neurological symptoms and complications, as ammonia is highly toxic to the brain. Hyperammonemia can be caused by various underlying conditions, including liver disease, genetic disorders that affect ammonia metabolism, certain medications, and infections. It is important to diagnose and treat hyperammonemia promptly to prevent long-term neurological damage or even death. Treatment typically involves addressing the underlying cause of the condition, as well as providing supportive care such as administering medications that help remove ammonia from the blood.

Lipid peroxidation is a process in which free radicals, such as reactive oxygen species (ROS), steal electrons from lipids containing carbon-carbon double bonds, particularly polyunsaturated fatty acids (PUFAs). This results in the formation of lipid hydroperoxides, which can decompose to form a variety of compounds including reactive carbonyl compounds, aldehydes, and ketones.

Malondialdehyde (MDA) is one such compound that is commonly used as a marker for lipid peroxidation. Lipid peroxidation can cause damage to cell membranes, leading to changes in their fluidity and permeability, and can also result in the modification of proteins and DNA, contributing to cellular dysfunction and ultimately cell death. It is associated with various pathological conditions such as atherosclerosis, neurodegenerative diseases, and cancer.

Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.

The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that affects the development of multiple body systems. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, which is needed for the production of cholesterol in the body.

The symptoms of SLOS can vary widely in severity, but often include developmental delays, intellectual disability, low muscle tone (hypotonia), feeding difficulties, and behavioral problems. Physical abnormalities may also be present, such as cleft palate, heart defects, extra fingers or toes (polydactyly), and genital abnormalities in males.

SLOS is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. It is typically diagnosed through genetic testing and biochemical analysis of blood or body fluids. Treatment for SLOS may include cholesterol supplementation, special education services, and management of associated medical conditions.

Glucose is a simple monosaccharide (or single sugar) that serves as the primary source of energy for living organisms. It's a fundamental molecule in biology, often referred to as "dextrose" or "grape sugar." Glucose has the molecular formula C6H12O6 and is vital to the functioning of cells, especially those in the brain and nervous system.

In the body, glucose is derived from the digestion of carbohydrates in food, and it's transported around the body via the bloodstream to cells where it can be used for energy. Cells convert glucose into a usable form through a process called cellular respiration, which involves a series of metabolic reactions that generate adenosine triphosphate (ATP)—the main currency of energy in cells.

Glucose is also stored in the liver and muscles as glycogen, a polysaccharide (multiple sugar) that can be broken down back into glucose when needed for energy between meals or during physical activity. Maintaining appropriate blood glucose levels is crucial for overall health, and imbalances can lead to conditions such as diabetes mellitus.

Phospholipids are a major class of lipids that consist of a hydrophilic (water-attracting) head and two hydrophobic (water-repelling) tails. The head is composed of a phosphate group, which is often bound to an organic molecule such as choline, ethanolamine, serine or inositol. The tails are made up of two fatty acid chains.

Phospholipids are a key component of cell membranes and play a crucial role in maintaining the structural integrity and function of the cell. They form a lipid bilayer, with the hydrophilic heads facing outwards and the hydrophobic tails facing inwards, creating a barrier that separates the interior of the cell from the outside environment.

Phospholipids are also involved in various cellular processes such as signal transduction, intracellular trafficking, and protein function regulation. Additionally, they serve as emulsifiers in the digestive system, helping to break down fats in the diet.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Carnitine is a naturally occurring substance in the body that plays a crucial role in energy production. It transports long-chain fatty acids into the mitochondria, where they can be broken down to produce energy. Carnitine is also available as a dietary supplement and is often used to treat or prevent carnitine deficiency.

The medical definition of Carnitine is:

"A quaternary ammonium compound that occurs naturally in animal tissues, especially in muscle, heart, brain, and liver. It is essential for the transport of long-chain fatty acids into the mitochondria, where they can be oxidized to produce energy. Carnitine also functions as an antioxidant and has been studied as a potential treatment for various conditions, including heart disease, diabetes, and kidney disease."

Carnitine is also known as L-carnitine or levocarnitine. It can be found in foods such as red meat, dairy products, fish, poultry, and tempeh. In the body, carnitine is synthesized from the amino acids lysine and methionine with the help of vitamin C and iron. Some people may have a deficiency in carnitine due to genetic factors, malnutrition, or certain medical conditions, such as kidney disease or liver disease. In these cases, supplementation may be necessary to prevent or treat symptoms of carnitine deficiency.

Refractive errors are a group of vision conditions that include nearsightedness (myopia), farsightedness (hyperopia), astigmatism, and presbyopia. These conditions occur when the shape of the eye prevents light from focusing directly on the retina, causing blurred or distorted vision.

Myopia is a condition where distant objects appear blurry while close-up objects are clear. This occurs when the eye is too long or the cornea is too curved, causing light to focus in front of the retina instead of directly on it.

Hyperopia, on the other hand, is a condition where close-up objects appear blurry while distant objects are clear. This happens when the eye is too short or the cornea is not curved enough, causing light to focus behind the retina.

Astigmatism is a condition that causes blurred vision at all distances due to an irregularly shaped cornea or lens.

Presbyopia is a natural aging process that affects everyone as they get older, usually around the age of 40. It causes difficulty focusing on close-up objects and can be corrected with reading glasses, bifocals, or progressive lenses.

Refractive errors can be diagnosed through a comprehensive eye exam and are typically corrected with eyeglasses, contact lenses, or refractive surgery such as LASIK.

Homogentisate 1,2-dioxygenase (HGD) is an enzyme that plays a crucial role in the catabolism of tyrosine, an aromatic amino acid. This enzyme is involved in the third step of the tyrosine degradation pathway, also known as the tyrosine breakdown or catabolic pathway.

The homogentisate 1,2-dioxygenase enzyme catalyzes the conversion of homogentisic acid (HGA) into maleylacetoacetic acid. This reaction involves the cleavage of the aromatic ring of HGA and the introduction of oxygen, hence the name 'dioxygenase.' The reaction can be summarized as follows:

Homogentisate + O2 → Maleylacetoacetate

Deficiency or dysfunction in homogentisate 1,2-dioxygenase leads to a rare genetic disorder called alkaptonuria. In this condition, the body cannot break down tyrosine properly, resulting in an accumulation of HGA and its oxidation product, alkapton, which can cause damage to connective tissues and joints over time.

Adipose tissue, also known as fatty tissue, is a type of connective tissue that is composed mainly of adipocytes (fat cells). It is found throughout the body, but is particularly abundant in the abdominal cavity, beneath the skin, and around organs such as the heart and kidneys.

Adipose tissue serves several important functions in the body. One of its primary roles is to store energy in the form of fat, which can be mobilized and used as an energy source during periods of fasting or exercise. Adipose tissue also provides insulation and cushioning for the body, and produces hormones that help regulate metabolism, appetite, and reproductive function.

There are two main types of adipose tissue: white adipose tissue (WAT) and brown adipose tissue (BAT). WAT is the more common form and is responsible for storing energy as fat. BAT, on the other hand, contains a higher number of mitochondria and is involved in heat production and energy expenditure.

Excessive accumulation of adipose tissue can lead to obesity, which is associated with an increased risk of various health problems such as diabetes, heart disease, and certain types of cancer.

Lipid peroxides are chemical compounds that form when lipids (fats or fat-like substances) oxidize. This process, known as lipid peroxidation, involves the reaction of lipids with oxygen in a way that leads to the formation of hydroperoxides and various aldehydes, such as malondialdehyde.

Lipid peroxidation is a naturally occurring process that can also be accelerated by factors such as exposure to radiation, certain chemicals, or enzymatic reactions. It plays a role in many biological processes, including cell signaling and regulation of gene expression, but it can also contribute to the development of various diseases when it becomes excessive.

Examples of lipid peroxides include phospholipid hydroperoxides, cholesteryl ester hydroperoxides, and triglyceride hydroperoxides. These compounds are often used as markers of oxidative stress in biological systems and have been implicated in the pathogenesis of atherosclerosis, cancer, neurodegenerative diseases, and other conditions associated with oxidative damage.

Metabolic diseases are a group of disorders caused by abnormal chemical reactions in your body's cells. These reactions are part of a complex process called metabolism, where your body converts the food you eat into energy.

There are several types of metabolic diseases, but they most commonly result from:

1. Your body not producing enough of certain enzymes that are needed to convert food into energy.
2. Your body producing too much of certain substances or toxins, often due to a genetic disorder.

Examples of metabolic diseases include phenylketonuria (PKU), diabetes, and gout. PKU is a rare condition where the body cannot break down an amino acid called phenylalanine, which can lead to serious health problems if left untreated. Diabetes is a common disorder that occurs when your body doesn't produce enough insulin or can't properly use the insulin it produces, leading to high blood sugar levels. Gout is a type of arthritis that results from too much uric acid in the body, which can form crystals in the joints and cause pain and inflammation.

Metabolic diseases can be inherited or acquired through environmental factors such as diet or lifestyle choices. Many metabolic diseases can be managed with proper medical care, including medication, dietary changes, and lifestyle modifications.

Homocystinuria is a genetic disorder characterized by the accumulation of homocysteine and its metabolites in the body due to a deficiency in the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for converting homocysteine to cystathionine, which is a critical step in the metabolic pathway that breaks down methionine.

As a result of this deficiency, homocysteine levels in the blood increase and can lead to various health problems, including neurological impairment, ocular abnormalities (such as ectopia lentis or dislocation of the lens), skeletal abnormalities (such as Marfan-like features), and vascular complications.

Homocystinuria can be diagnosed through newborn screening or by measuring homocysteine levels in the blood or urine. Treatment typically involves a low-methionine diet, supplementation with vitamin B6 (pyridoxine), betaine, and/or methylcobalamin (a form of vitamin B12) to help reduce homocysteine levels and prevent complications associated with the disorder.

Chronic mucocutaneous candidiasis (CMC) is a group of rare disorders characterized by persistent or recurrent Candida infections of the skin, nails, and mucous membranes. The infection can affect various sites such as the mouth, esophagus, respiratory tract, gastrointestinal tract, and genitourinary tract.

CMC is typically caused by an impaired immune response to Candida albicans, a type of fungus that commonly exists on the skin and mucous membranes. In CMC, the immune system fails to control the growth of Candida, leading to chronic or recurrent infections.

The symptoms of CMC can vary depending on the site of infection. Common manifestations include:

* Chronic or recurrent thrush (oral candidiasis)
* Esophagitis (inflammation of the esophagus)
* Chronic nail infections (onychomycosis)
* Skin lesions, such as redness, swelling, and cracks
* Genital infections, including vaginitis and balanitis (inflammation of the head of the penis)

CMC can be associated with other immune disorders, such as endocrine dysfunction, autoimmune diseases, and primary immunodeficiencies. The diagnosis of CMC is based on clinical manifestations, laboratory tests, and imaging studies. Treatment typically involves antifungal medications, such as topical or systemic azoles, echinocandins, or polyenes. In some cases, immunomodulatory therapy may be necessary to manage the underlying immune dysfunction.

Inborn errors of pyruvate metabolism refer to genetic disorders that affect the body's ability to properly metabolize pyruvate, a key intermediate in glucose metabolism. Pyruvate is produced in the cells during the breakdown of glucose for energy production. Normally, pyruvate can be converted into acetyl-CoA and enter the citric acid cycle (also known as the Krebs cycle) for further energy production. However, in individuals with inborn errors of pyruvate metabolism, this conversion process is impaired due to defects in enzymes or transport proteins involved in pyruvate metabolism.

There are several types of inborn errors of pyruvate metabolism, including:

1. Pyruvate dehydrogenase deficiency: This is a genetic disorder caused by mutations in the genes encoding components of the pyruvate dehydrogenase (PDH) complex, which catalyzes the conversion of pyruvate to acetyl-CoA. PDH deficiency can lead to lactic acidosis, neurological problems, and developmental delay.
2. Pyruvate carboxylase deficiency: This is a rare genetic disorder caused by mutations in the gene encoding pyruvate carboxylase, an enzyme that converts pyruvate to oxaloacetate, which can then be used to synthesize glucose. Pyruvate carboxylase deficiency can cause lactic acidosis, seizures, and developmental delay.
3. Mitochondrial disorders: Some mitochondrial disorders can affect pyruvate metabolism by impairing the function of the electron transport chain, which is necessary for energy production in the cells. These disorders can lead to lactic acidosis, muscle weakness, and neurological problems.
4. Other inborn errors: There are several other rare genetic disorders that can affect pyruvate metabolism, including defects in the mitochondrial pyruvate carrier protein, which transports pyruvate into the mitochondria, and deficiencies in enzymes involved in the citric acid cycle.

Treatment for these disorders typically involves managing symptoms, such as controlling lactic acidosis and providing supportive care for neurological problems. In some cases, dietary modifications or supplements may be recommended to help improve pyruvate metabolism.

Alpha-galactosidase is an enzyme that breaks down complex carbohydrates, specifically those containing alpha-galactose molecules. This enzyme is found in humans, animals, and microorganisms. In humans, a deficiency of this enzyme can lead to a genetic disorder known as Fabry disease, which is characterized by the accumulation of these complex carbohydrates in various tissues and organs, leading to progressive damage. Alpha-galactosidase is also used as a medication for the treatment of Fabry disease, where it is administered intravenously to help break down the accumulated carbohydrates and alleviate symptoms.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3 or GL-3), in various tissues and organs throughout the body. The accumulation of these lipids results in progressive damage to multiple organ systems, including the heart, kidneys, nerves, and skin.

The symptoms of Fabry disease can vary widely among affected individuals, but common manifestations include:

1. Pain: Acroparesthesias (burning or tingling sensations) in the hands and feet, episodic pain crises, chronic pain, and neuropathy.
2. Skin: Angiokeratomas (small, red, rough bumps on the skin), hypohidrosis (decreased sweating), and anhydrosis (absent sweating).
3. Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, and vomiting.
4. Cardiovascular: Left ventricular hypertrophy (enlargement of the heart muscle), cardiomyopathy, ischemic heart disease, arrhythmias, and valvular abnormalities.
5. Renal: Proteinuria (protein in the urine), hematuria (blood in the urine), chronic kidney disease, and end-stage renal disease.
6. Nervous system: Hearing loss, tinnitus, vertigo, stroke, and cognitive decline.
7. Ocular: Corneal opacities, cataracts, and retinal vessel abnormalities.
8. Pulmonary: Chronic cough, bronchial hyperresponsiveness, and restrictive lung disease.
9. Reproductive system: Erectile dysfunction in males and menstrual irregularities in females.

Fabry disease affects both males and females, but the severity of symptoms is generally more pronounced in males due to the X-linked inheritance pattern. Early diagnosis and treatment with enzyme replacement therapy (ERT) or chaperone therapy can help manage the progression of the disease and improve quality of life.

Nonesterified fatty acids (NEFA), also known as free fatty acids (FFA), refer to fatty acid molecules that are not bound to glycerol in the form of triglycerides or other esters. In the bloodstream, NEFAs are transported while bound to albumin and can serve as a source of energy for peripheral tissues. Under normal physiological conditions, NEFA levels are tightly regulated by the body; however, elevated NEFA levels have been associated with various metabolic disorders such as insulin resistance, obesity, and type 2 diabetes.

Metabolic networks and pathways refer to the complex interconnected series of biochemical reactions that occur within cells to maintain life. These reactions are catalyzed by enzymes and are responsible for the conversion of nutrients into energy, as well as the synthesis and breakdown of various molecules required for cellular function.

A metabolic pathway is a series of chemical reactions that occur in a specific order, with each reaction being catalyzed by a different enzyme. These pathways are often interconnected, forming a larger network of interactions known as a metabolic network.

Metabolic networks can be represented as complex diagrams or models, which show the relationships between different pathways and the flow of matter and energy through the system. These networks can help researchers to understand how cells regulate their metabolism in response to changes in their environment, and how disruptions to these networks can lead to disease.

Some common examples of metabolic pathways include glycolysis, the citric acid cycle (also known as the Krebs cycle), and the pentose phosphate pathway. Each of these pathways plays a critical role in maintaining cellular homeostasis and providing energy for cellular functions.

Metabolism is the complex network of chemical reactions that occur within our bodies to maintain life. It involves two main types of processes: catabolism, which is the breaking down of molecules to release energy, and anabolism, which is the building up of molecules using energy. These reactions are necessary for the body to grow, reproduce, respond to environmental changes, and repair itself. Metabolism is a continuous process that occurs at the cellular level and is regulated by enzymes, hormones, and other signaling molecules. It is influenced by various factors such as age, genetics, diet, physical activity, and overall health status.

The Australian Capital Territory (ACT) is a federal territory of Australia that serves as the country's capital and is home to the city of Canberra. It is not a state, but rather a separate territorial jurisdiction that is self-governing, with its own legislative assembly responsible for local governance.

The ACT was established in 1911 as the site for Australia's capital city, following a compromise between the two largest cities in the country at the time, Sydney and Melbourne, which both sought to be named the national capital. The territory covers an area of approximately 2,358 square kilometers (910 square miles) and has a population of around 430,000 people.

The ACT is home to many important government buildings and institutions, including Parliament House, the High Court of Australia, and the Australian War Memorial. It also boasts a diverse range of natural attractions, such as the Namadgi National Park and the Tidbinbilla Nature Reserve, which offer opportunities for hiking, camping, and wildlife viewing.

In medical terms, the ACT has its own healthcare system and infrastructure, with several hospitals, clinics, and medical centers located throughout the territory. The Australian Government provides funding for public health services in the ACT, while private health insurance is also available to residents. The territory's main hospital, Canberra Hospital, offers a range of specialist medical services, including emergency care, cancer treatment, and mental health services.

Ornithine Carbamoyltransferase (OCT) Deficiency Disease, also known as Ornithine Transcarbamylase Deficiency, is a rare inherited urea cycle disorder. It is caused by a deficiency of the enzyme ornithine carbamoyltransferase, which is responsible for one of the steps in the urea cycle that helps to rid the body of excess nitrogen (in the form of ammonia).

When OCT function is impaired, nitrogen accumulates and forms ammonia, leading to hyperammonemia (elevated blood ammonia levels), which can cause neurological symptoms such as lethargy, vomiting, irritability, and in severe cases, coma or death.

Symptoms of OCT deficiency can range from mild to severe and may include developmental delay, seizures, behavioral changes, and movement disorders. The diagnosis is typically made through newborn screening tests, enzyme assays, and genetic testing. Treatment usually involves a combination of dietary restrictions, medications that help remove nitrogen from the body, and in some cases, liver transplantation.

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

Argininosuccinic acid is a chemical compound that is an intermediate in the metabolic pathway for the synthesis of arginine, an essential amino acid. This process occurs in the urea cycle, which is responsible for removing excess nitrogen from the body in the form of urea.

In the urea cycle, citrulline reacts with aspartate to form argininosuccinic acid, which is then converted into arginine and fumarate by the enzyme argininosuccinate lyase. Arginine is a semi-essential amino acid that plays important roles in various physiological processes, including protein synthesis, nitric oxide production, and hormone secretion.

Argininosuccinic aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This results in an accumulation of argininosuccinic acid in the blood and urine, leading to hyperammonemia (elevated levels of ammonia in the blood), neurological symptoms, and developmental delay. Treatment typically involves a low-protein diet, supplementation with arginine and citrulline, and nitrogen scavenging medications to reduce ammonia levels.

Oxidation-Reduction (redox) reactions are a type of chemical reaction involving a transfer of electrons between two species. The substance that loses electrons in the reaction is oxidized, and the substance that gains electrons is reduced. Oxidation and reduction always occur together in a redox reaction, hence the term "oxidation-reduction."

In biological systems, redox reactions play a crucial role in many cellular processes, including energy production, metabolism, and signaling. The transfer of electrons in these reactions is often facilitated by specialized molecules called electron carriers, such as nicotinamide adenine dinucleotide (NAD+/NADH) and flavin adenine dinucleotide (FAD/FADH2).

The oxidation state of an element in a compound is a measure of the number of electrons that have been gained or lost relative to its neutral state. In redox reactions, the oxidation state of one or more elements changes as they gain or lose electrons. The substance that is oxidized has a higher oxidation state, while the substance that is reduced has a lower oxidation state.

Overall, oxidation-reduction reactions are fundamental to the functioning of living organisms and are involved in many important biological processes.

Insulin is a hormone produced by the beta cells of the pancreatic islets, primarily in response to elevated levels of glucose in the circulating blood. It plays a crucial role in regulating blood glucose levels and facilitating the uptake and utilization of glucose by peripheral tissues, such as muscle and adipose tissue, for energy production and storage. Insulin also inhibits glucose production in the liver and promotes the storage of excess glucose as glycogen or triglycerides.

Deficiency in insulin secretion or action leads to impaired glucose regulation and can result in conditions such as diabetes mellitus, characterized by chronic hyperglycemia and associated complications. Exogenous insulin is used as a replacement therapy in individuals with diabetes to help manage their blood glucose levels and prevent long-term complications.

Isovaleryl-CoA Dehydrogenase (IVD) is an enzyme that plays a crucial role in the catabolism of leucine, an essential amino acid. This enzyme is located in the mitochondrial matrix and is responsible for catalyzing the third step in the degradation pathway of leucine.

Specifically, Isovaleryl-CoA Dehydrogenase facilitates the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA through the removal of two hydrogen atoms from the substrate. This reaction requires the coenzyme flavin adenine dinucleotide (FAD) as an electron acceptor, which gets reduced to FADH2 during the process.

Deficiency in Isovaleryl-CoA Dehydrogenase can lead to a rare genetic disorder known as isovaleric acidemia, characterized by the accumulation of isovaleryl-CoA and its metabolic byproducts, including isovaleric acid, 3-hydroxyisovaleric acid, and methylcrotonylglycine. These metabolites can cause various symptoms such as vomiting, dehydration, metabolic acidosis, seizures, developmental delay, and even coma or death in severe cases.

Hypophosphatasia is a rare inherited metabolic disorder characterized by defective bone mineralization due to deficiency of alkaline phosphatase, an enzyme that is crucial for the formation of strong and healthy bones. This results in skeletal abnormalities, including softening and weakening of the bones (rickets in children and osteomalacia in adults), premature loss of teeth, and an increased risk of fractures.

The disorder can vary widely in severity, from mild cases with few symptoms to severe forms that can lead to disability or even be life-threatening in infancy. Hypophosphatasia is caused by mutations in the ALPL gene, which provides instructions for making the tissue non-specific alkaline phosphatase (TNSALP) enzyme. Inheritance is autosomal recessive, meaning an individual must inherit two copies of the mutated gene (one from each parent) to have the condition.

Blood glucose, also known as blood sugar, is the concentration of glucose in the blood. Glucose is a simple sugar that serves as the main source of energy for the body's cells. It is carried to each cell through the bloodstream and is absorbed into the cells with the help of insulin, a hormone produced by the pancreas.

The normal range for blood glucose levels in humans is typically between 70 and 130 milligrams per deciliter (mg/dL) when fasting, and less than 180 mg/dL after meals. Levels that are consistently higher than this may indicate diabetes or other metabolic disorders.

Blood glucose levels can be measured through a variety of methods, including fingerstick blood tests, continuous glucose monitoring systems, and laboratory tests. Regular monitoring of blood glucose levels is important for people with diabetes to help manage their condition and prevent complications.

Dietary fats, also known as fatty acids, are a major nutrient that the body needs for energy and various functions. They are an essential component of cell membranes and hormones, and they help the body absorb certain vitamins. There are several types of dietary fats:

1. Saturated fats: These are typically solid at room temperature and are found in animal products such as meat, butter, and cheese, as well as tropical oils like coconut and palm oil. Consuming a high amount of saturated fats can raise levels of unhealthy LDL cholesterol and increase the risk of heart disease.
2. Unsaturated fats: These are typically liquid at room temperature and can be further divided into monounsaturated and polyunsaturated fats. Monounsaturated fats, found in foods such as olive oil, avocados, and nuts, can help lower levels of unhealthy LDL cholesterol while maintaining levels of healthy HDL cholesterol. Polyunsaturated fats, found in foods such as fatty fish, flaxseeds, and walnuts, have similar effects on cholesterol levels and also provide essential omega-3 and omega-6 fatty acids that the body cannot produce on its own.
3. Trans fats: These are unsaturated fats that have been chemically modified to be solid at room temperature. They are often found in processed foods such as baked goods, fried foods, and snack foods. Consuming trans fats can raise levels of unhealthy LDL cholesterol and lower levels of healthy HDL cholesterol, increasing the risk of heart disease.

It is recommended to limit intake of saturated and trans fats and to consume more unsaturated fats as part of a healthy diet.

Methylmalonic acid (MMA) is an organic compound that is produced in the human body during the metabolism of certain amino acids, including methionine and threonine. It is a type of fatty acid that is intermediate in the breakdown of these amino acids in the liver and other tissues.

Under normal circumstances, MMA is quickly converted to succinic acid, which is then used in the Krebs cycle to generate energy in the form of ATP. However, when there are deficiencies or mutations in enzymes involved in this metabolic pathway, such as methylmalonyl-CoA mutase, MMA can accumulate in the body and cause methylmalonic acidemia, a rare genetic disorder that affects approximately 1 in every 50,000 to 100,000 individuals worldwide.

Elevated levels of MMA in the blood or urine can be indicative of various metabolic disorders, including methylmalonic acidemia, vitamin B12 deficiency, and renal insufficiency. Therefore, measuring MMA levels is often used as a diagnostic tool to help identify and manage these conditions.

PPAR-alpha (Peroxisome Proliferator-Activated Receptor alpha) is a type of nuclear receptor protein that functions as a transcription factor, regulating the expression of specific genes involved in lipid metabolism. It plays a crucial role in the breakdown of fatty acids and the synthesis of high-density lipoproteins (HDL or "good" cholesterol) in the liver. PPAR-alpha activation also has anti-inflammatory effects, making it a potential therapeutic target for metabolic disorders such as diabetes, hyperlipidemia, and non-alcoholic fatty liver disease (NAFLD).

Lipoproteins are complex particles composed of multiple proteins and lipids (fats) that play a crucial role in the transport and metabolism of fat molecules in the body. They consist of an outer shell of phospholipids, free cholesterols, and apolipoproteins, enclosing a core of triglycerides and cholesteryl esters.

There are several types of lipoproteins, including:

1. Chylomicrons: These are the largest lipoproteins and are responsible for transporting dietary lipids from the intestines to other parts of the body.
2. Very-low-density lipoproteins (VLDL): Produced by the liver, VLDL particles carry triglycerides to peripheral tissues for energy storage or use.
3. Low-density lipoproteins (LDL): Often referred to as "bad cholesterol," LDL particles transport cholesterol from the liver to cells throughout the body. High levels of LDL in the blood can lead to plaque buildup in artery walls and increase the risk of heart disease.
4. High-density lipoproteins (HDL): Known as "good cholesterol," HDL particles help remove excess cholesterol from cells and transport it back to the liver for excretion or recycling. Higher levels of HDL are associated with a lower risk of heart disease.

Understanding lipoproteins and their roles in the body is essential for assessing cardiovascular health and managing risks related to heart disease and stroke.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Diagnostic errors refer to inaccurate or delayed diagnoses of a patient's medical condition, which can lead to improper or unnecessary treatment and potentially serious harm to the patient. These errors can occur due to various factors such as lack of clinical knowledge, failure to consider all possible diagnoses, inadequate communication between healthcare providers and patients, and problems with testing or interpretation of test results. Diagnostic errors are a significant cause of preventable harm in medical care and have been identified as a priority area for quality improvement efforts.

Metabolic brain diseases refer to a group of conditions that are caused by disruptions in the body's metabolic processes, which affect the brain. These disorders can be inherited or acquired and can result from problems with the way the body produces, breaks down, or uses energy and nutrients.

Examples of metabolic brain diseases include:

1. Mitochondrial encephalomyopathies: These are a group of genetic disorders that affect the mitochondria, which are the energy-producing structures in cells. When the mitochondria don't function properly, it can lead to muscle weakness, neurological problems, and developmental delays.
2. Leukodystrophies: These are a group of genetic disorders that affect the white matter of the brain, which is made up of nerve fibers covered in myelin, a fatty substance that insulates the fibers and helps them transmit signals. When the myelin breaks down or is not produced properly, it can lead to cognitive decline, motor problems, and other neurological symptoms.
3. Lysosomal storage disorders: These are genetic disorders that affect the lysosomes, which are structures in cells that break down waste products and recycle cellular materials. When the lysosomes don't function properly, it can lead to the accumulation of waste products in cells, including brain cells, causing damage and neurological symptoms.
4. Maple syrup urine disease: This is a genetic disorder that affects the way the body breaks down certain amino acids, leading to a buildup of toxic levels of these substances in the blood and urine. If left untreated, it can cause brain damage, developmental delays, and other neurological problems.
5. Homocystinuria: This is a genetic disorder that affects the way the body processes an amino acid called methionine, leading to a buildup of homocysteine in the blood. High levels of homocysteine can cause damage to the blood vessels and lead to neurological problems, including seizures, developmental delays, and cognitive decline.

Treatment for metabolic brain diseases may involve dietary changes, supplements, medications, or other therapies aimed at managing symptoms and preventing further damage to the brain. In some cases, a stem cell transplant may be recommended as a treatment option.

I am sorry for any confusion, but "Pentanoic Acids" is not a recognized medical term or concept. Pentanoic acid, also known as valeric acid, is an organic compound with the formula CH3CH2CH2CH2CO2H. It is a fatty acid with five carbon atoms, and it may have some uses in industry, but it does not have specific relevance to medical definition or healthcare.

Magnetic Resonance Spectroscopy (MRS) is a non-invasive diagnostic technique that provides information about the biochemical composition of tissues, including their metabolic state. It is often used in conjunction with Magnetic Resonance Imaging (MRI) to analyze various metabolites within body tissues, such as the brain, heart, liver, and muscles.

During MRS, a strong magnetic field, radio waves, and a computer are used to produce detailed images and data about the concentration of specific metabolites in the targeted tissue or organ. This technique can help detect abnormalities related to energy metabolism, neurotransmitter levels, pH balance, and other biochemical processes, which can be useful for diagnosing and monitoring various medical conditions, including cancer, neurological disorders, and metabolic diseases.

There are different types of MRS, such as Proton (^1^H) MRS, Phosphorus-31 (^31^P) MRS, and Carbon-13 (^13^C) MRS, each focusing on specific elements or metabolites within the body. The choice of MRS technique depends on the clinical question being addressed and the type of information needed for diagnosis or monitoring purposes.

Oxidoreductases acting on CH-CH group donors are a class of enzymes within the larger group of oxidoreductases, which are responsible for catalyzing oxidation-reduction reactions. Specifically, this subclass of enzymes acts upon donors containing a carbon-carbon (CH-CH) bond, where one atom or group of atoms is oxidized and another is reduced during the reaction process. These enzymes play crucial roles in various metabolic pathways, including the breakdown and synthesis of carbohydrates, lipids, and amino acids.

The reactions catalyzed by these enzymes involve the transfer of electrons and hydrogen atoms between the donor and an acceptor molecule. This process often results in the formation or cleavage of carbon-carbon bonds, making them essential for numerous biological processes. The systematic name for this class of enzymes is typically structured as "donor:acceptor oxidoreductase," where donor and acceptor represent the molecules involved in the electron transfer process.

Examples of enzymes that fall under this category include:

1. Aldehyde dehydrogenases (EC 1.2.1.3): These enzymes catalyze the oxidation of aldehydes to carboxylic acids, using NAD+ as an electron acceptor.
2. Dihydrodiol dehydrogenase (EC 1.3.1.14): This enzyme is responsible for the oxidation of dihydrodiols to catechols in the biodegradation of aromatic compounds.
3. Succinate dehydrogenase (EC 1.3.5.1): A key enzyme in the citric acid cycle, succinate dehydrogenase catalyzes the oxidation of succinate to fumarate and reduces FAD to FADH2.
4. Xylose reductase (EC 1.1.1.307): This enzyme is involved in the metabolism of pentoses, where it reduces xylose to xylitol using NADPH as a cofactor.

Lipolysis is the process by which fat cells (adipocytes) break down stored triglycerides into glycerol and free fatty acids. This process occurs when the body needs to use stored fat as a source of energy, such as during fasting, exercise, or in response to certain hormonal signals. The breakdown products of lipolysis can be used directly by cells for energy production or can be released into the bloodstream and transported to other tissues for use. Lipolysis is regulated by several hormones, including adrenaline (epinephrine), noradrenaline (norepinephrine), cortisol, glucagon, and growth hormone, which act on lipases, enzymes that mediate the breakdown of triglycerides.

Hydroxocobalamin is a form of vitamin B12 that is used in medical treatments. It is a synthetic version of the naturally occurring compound, and it is often used to treat vitamin B12 deficiencies. Hydroxocobalamin is also used to treat poisoning from cyanide, as it can bind with the cyanide to form a non-toxic compound that can be excreted from the body.

In medical terms, hydroxocobalamin is defined as: "A bright red crystalline compound, C21H30CoN4O7·2H2O, used in the treatment of vitamin B12 deficiency and as an antidote for cyanide poisoning. It is converted in the body to active coenzyme forms."

It's important to note that hydroxocobalamin should only be used under the supervision of a medical professional, as improper use can lead to serious side effects or harm.

Methylmalonyl-CoA mutase is a mitochondrial enzyme that plays a crucial role in the metabolism of certain amino acids and fatty acids. Specifically, it catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, which is an important step in the catabolic pathways of valine, isoleucine, threonine, methionine, odd-chain fatty acids, and cholesterol.

The enzyme requires a cofactor called adenosylcobalamin (vitamin B12) for its activity. In the absence of this cofactor or due to mutations in the gene encoding the enzyme, methylmalonyl-CoA mutase deficiency can occur, leading to the accumulation of methylmalonic acid and other toxic metabolites, which can cause a range of symptoms including vomiting, dehydration, lethargy, hypotonia, developmental delay, and metabolic acidosis. This condition is typically inherited in an autosomal recessive manner and can be diagnosed through biochemical tests and genetic analysis.

Body weight is the measure of the force exerted on a scale or balance by an object's mass, most commonly expressed in units such as pounds (lb) or kilograms (kg). In the context of medical definitions, body weight typically refers to an individual's total weight, which includes their skeletal muscle, fat, organs, and bodily fluids.

Healthcare professionals often use body weight as a basic indicator of overall health status, as it can provide insights into various aspects of a person's health, such as nutritional status, metabolic function, and risk factors for certain diseases. For example, being significantly underweight or overweight can increase the risk of developing conditions like malnutrition, diabetes, heart disease, and certain types of cancer.

It is important to note that body weight alone may not provide a complete picture of an individual's health, as it does not account for factors such as muscle mass, bone density, or body composition. Therefore, healthcare professionals often use additional measures, such as body mass index (BMI), waist circumference, and blood tests, to assess overall health status more comprehensively.

Inborn errors of metal metabolism refer to genetic disorders that affect the way the body processes and handles certain metallic elements. These disorders can result in an accumulation or deficiency of specific metals, leading to various clinical manifestations. Examples of such conditions include:

1. Wilson's disease: An autosomal recessive disorder caused by a mutation in the ATP7B gene, which results in abnormal copper metabolism and accumulation in various organs, particularly the liver and brain.
2. Menkes disease: An X-linked recessive disorder caused by a mutation in the ATP7A gene, leading to impaired copper transport and deficiency, affecting the brain, bones, and connective tissue.
3. Hemochromatosis: An autosomal recessive disorder characterized by excessive iron absorption and deposition in various organs, causing damage to the liver, heart, and pancreas.
4. Acrodermatitis enteropathica: A rare autosomal recessive disorder caused by a mutation in the SLC39A4 gene, resulting in zinc deficiency and affecting the skin, gastrointestinal system, and immune function.
5. Disturbances in manganese metabolism: Rare genetic disorders that can lead to either manganese accumulation or deficiency, causing neurological symptoms.

These conditions often require specialized medical management, including dietary modifications, chelation therapy, and/or supplementation to maintain appropriate metal homeostasis and prevent organ damage.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Sterol Regulatory Element Binding Protein 1 (SREBP-1) is a transcription factor that plays a crucial role in the regulation of lipid metabolism, primarily cholesterol and fatty acid biosynthesis. It binds to specific DNA sequences called sterol regulatory elements (SREs), which are present in the promoter regions of genes involved in lipid synthesis.

SREBP-1 exists in two isoforms, SREBP-1a and SREBP-1c, encoded by a single gene through alternative splicing. SREBP-1a is a stronger transcriptional activator than SREBP-1c and can activate both cholesterol and fatty acid synthesis genes. In contrast, SREBP-1c primarily regulates fatty acid synthesis genes.

Under normal conditions, SREBP-1 is found in the endoplasmic reticulum (ER) membrane as an inactive precursor bound to another protein called SREBP cleavage-activating protein (SCAP). When cells detect low levels of cholesterol or fatty acids, SCAP escorts SREBP-1 to the Golgi apparatus, where it undergoes proteolytic processing to release the active transcription factor. The active SREBP-1 then translocates to the nucleus and binds to SREs, promoting the expression of genes involved in lipid synthesis.

Overall, SREBP-1 is a critical regulator of lipid homeostasis, and its dysregulation has been implicated in various diseases, including obesity, insulin resistance, nonalcoholic fatty liver disease (NAFLD), and atherosclerosis.

Inborn errors of fructose metabolism refer to genetic disorders that affect the body's ability to break down and process fructose, a simple sugar found in fruits, vegetables, and honey. These disorders are caused by mutations in genes responsible for encoding enzymes involved in fructose metabolism.

The two main types of inborn errors of fructose metabolism are:

1. Hereditary Fructose Intolerance (HFI): This is a rare genetic disorder caused by a deficiency of the enzyme aldolase B, which is necessary for the breakdown of fructose in the liver. When individuals with HFI consume fructose or sucrose (a disaccharide that contains fructose and glucose), they experience a buildup of toxic metabolites, leading to symptoms such as vomiting, abdominal pain, hypoglycemia, and in severe cases, liver damage and failure.
2. Fructose-1,6-bisphosphatase Deficiency (FBPase Deficiency): This is a rare autosomal recessive disorder caused by a deficiency of the enzyme fructose-1,6-bisphosphatase, which is essential for gluconeogenesis (the process of generating glucose from non-carbohydrate sources). Individuals with FBPase Deficiency experience symptoms such as hypoglycemia, lactic acidosis, and hyperventilation, particularly during periods of fasting or illness.

Both disorders can be managed through dietary restrictions and close monitoring of blood sugar levels. In severe cases, enzyme replacement therapy or liver transplantation may be considered.

Lipogenesis is the biological process by which fatty acids are synthesized and stored as lipids or fat in living organisms. This process occurs primarily in the liver and adipose tissue, with excess glucose being converted into fatty acids and then esterified to form triglycerides. These triglycerides are then packaged with proteins and cholesterol to form lipoproteins, which are transported throughout the body for energy storage or use. Lipogenesis is a complex process involving multiple enzymes and metabolic pathways, and it is tightly regulated by hormones such as insulin, glucagon, and adrenaline. Disorders of lipogenesis can lead to conditions such as obesity, fatty liver disease, and metabolic disorders.

Glutarates are compounds that contain a glutaric acid group. Glutaric acid is a carboxylic acid with a five-carbon chain and two carboxyl groups at the 1st and 5th carbon positions. Glutarates can be found in various substances, including certain foods and medications.

In a medical context, glutarates are sometimes used as ingredients in pharmaceutical products. For example, sodium phenylbutyrate, which is a salt of phenylbutyric acid and butyric acid, contains a glutaric acid group and is used as a medication to treat urea cycle disorders.

Glutarates can also be found in some metabolic pathways in the body, where they play a role in energy production and other biochemical processes. However, abnormal accumulation of glutaric acid or its derivatives can lead to certain medical conditions, such as glutaric acidemia type I, which is an inherited disorder of metabolism that can cause neurological symptoms and other health problems.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Insulin resistance is a condition in which the body's cells become less responsive to insulin, a hormone produced by the pancreas that regulates blood sugar levels. In response to this decreased sensitivity, the pancreas produces more insulin to help glucose enter the cells. However, over time, the pancreas may not be able to keep up with the increased demand for insulin, leading to high levels of glucose in the blood and potentially resulting in type 2 diabetes, prediabetes, or other health issues such as metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease. Insulin resistance is often associated with obesity, physical inactivity, and genetic factors.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder characterized by an inability to break down certain amino acids (leucine, isoleucine, and valine) due to deficiency of the enzyme complex branched-chain keto acid dehydrogenase. This results in their accumulation in body fluids, including urine, which gives it a characteristic sweet smell, reminiscent of maple syrup.

The disease can lead to serious neurological complications if left untreated, including seizures, vomiting, mental retardation, and even death. There are different forms of MSUD, ranging from severe (classic) to milder (intermittent or variant). Treatment typically involves a strict lifelong diet low in these amino acids, regular monitoring of blood and urine, and sometimes supplementation with enzymes or medications.

Phosphatidylcholines (PtdCho) are a type of phospholipids that are essential components of cell membranes in living organisms. They are composed of a hydrophilic head group, which contains a choline moiety, and two hydrophobic fatty acid chains. Phosphatidylcholines are crucial for maintaining the structural integrity and function of cell membranes, and they also serve as important precursors for the synthesis of signaling molecules such as acetylcholine. They can be found in various tissues and biological fluids, including blood, and are abundant in foods such as soybeans, eggs, and meat. Phosphatidylcholines have been studied for their potential health benefits, including their role in maintaining healthy lipid metabolism and reducing the risk of cardiovascular disease.

Mass spectrometry (MS) is an analytical technique used to identify and quantify the chemical components of a mixture or compound. It works by ionizing the sample, generating charged molecules or fragments, and then measuring their mass-to-charge ratio in a vacuum. The resulting mass spectrum provides information about the molecular weight and structure of the analytes, allowing for identification and characterization.

In simpler terms, mass spectrometry is a method used to determine what chemicals are present in a sample and in what quantities, by converting the chemicals into ions, measuring their masses, and generating a spectrum that shows the relative abundances of each ion type.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Amidinotransferases are a group of enzymes that play a role in the metabolism of amino acids and other biologically active compounds. These enzymes catalyze the transfer of an amidino group (-NH-C=NH) from one molecule to another, typically from an amino acid or related compound donor to an acceptor molecule.

The amidinotransferases are classified as a subgroup of the larger family of enzymes known as transferases, which catalyze the transfer of various functional groups between molecules. Within this family, the amidinotransferases are further divided into several subfamilies based on their specific functions and the types of donor and acceptor molecules they act upon.

One example of an amidinotransferase is arginine:glycine amidinotransferase (AGAT), which plays a role in the biosynthesis of creatine, a compound that is important for energy metabolism in muscles and other tissues. AGAT transfers an amidino group from arginine to glycine, forming guanidinoacetate and ornithine as products.

Abnormalities in the activity of amidinotransferases have been implicated in various diseases, including neurological disorders and certain genetic conditions. For example, mutations in the gene encoding AGAT have been associated with a rare inherited disorder called cerebral creatine deficiency syndrome type 1 (CCDS1), which is characterized by developmental delay, intellectual disability, and other neurological symptoms.

Gene expression profiling is a laboratory technique used to measure the activity (expression) of thousands of genes at once. This technique allows researchers and clinicians to identify which genes are turned on or off in a particular cell, tissue, or organism under specific conditions, such as during health, disease, development, or in response to various treatments.

The process typically involves isolating RNA from the cells or tissues of interest, converting it into complementary DNA (cDNA), and then using microarray or high-throughput sequencing technologies to determine which genes are expressed and at what levels. The resulting data can be used to identify patterns of gene expression that are associated with specific biological states or processes, providing valuable insights into the underlying molecular mechanisms of diseases and potential targets for therapeutic intervention.

In recent years, gene expression profiling has become an essential tool in various fields, including cancer research, drug discovery, and personalized medicine, where it is used to identify biomarkers of disease, predict patient outcomes, and guide treatment decisions.

Erythropoietic Porphyria (EP) is a rare inherited disorder of the heme biosynthesis pathway, specifically caused by a deficiency of the enzyme uroporphyrinogen III synthase. This results in the accumulation of porphyrin precursors, particularly uroporphyrin I and coproporphyrin I, in erythrocytes (red blood cells), bone marrow, and other tissues. The accumulation of these porphyrins leads to photosensitivity, hemolysis, and iron overload.

The symptoms of EP typically appear in childhood or early adulthood and include severe skin fragility and blistering, particularly on sun-exposed areas, which can result in scarring, disfigurement, and increased susceptibility to infection. Other features may include anemia due to hemolysis, iron overload, and splenomegaly (enlarged spleen).

The diagnosis of EP is based on clinical symptoms, laboratory tests measuring porphyrin levels in blood and urine, and genetic testing to confirm the presence of pathogenic variants in the UROS gene. Treatment for EP includes avoidance of sunlight exposure, use of sun-protective measures, and management of anemia with blood transfusions or erythropoietin injections. In some cases, bone marrow transplantation may be considered as a curative treatment option.

Glutaryl-CoA Dehydrogenase (GCDH) is an enzyme that plays a crucial role in the catabolism of the amino acids lysine and hydroxylysine. It is located in the inner mitochondrial membrane and functions as a homotetramer, with each subunit containing one molecule of FAD as a cofactor.

GCDH catalyzes the oxidative decarboxylation of glutaryl-CoA to form succinyl-CoA, which is then further metabolized in the citric acid cycle. This reaction also involves the reduction of FAD to FADH2, which can subsequently be used in the electron transport chain to generate ATP.

Deficiency in GCDH function can lead to a rare inherited disorder called glutaric acidemia type I (GA-I), which is characterized by an accumulation of glutaryl-CoA and its metabolites, including glutaric acid and 3-hydroxyglutaric acid. These metabolites can cause neurological damage and intellectual disability if left untreated.

Cytoplasmic receptors and nuclear receptors are two types of intracellular receptors that play crucial roles in signal transduction pathways and regulation of gene expression. They are classified based on their location within the cell. Here are the medical definitions for each:

1. Cytoplasmic Receptors: These are a group of intracellular receptors primarily found in the cytoplasm of cells, which bind to specific hormones, growth factors, or other signaling molecules. Upon binding, these receptors undergo conformational changes that allow them to interact with various partners, such as adapter proteins and enzymes, leading to activation of downstream signaling cascades. These pathways ultimately result in modulation of cellular processes like proliferation, differentiation, and apoptosis. Examples of cytoplasmic receptors include receptor tyrosine kinases (RTKs), serine/threonine kinase receptors, and cytokine receptors.
2. Nuclear Receptors: These are a distinct class of intracellular receptors that reside primarily in the nucleus of cells. They bind to specific ligands, such as steroid hormones, thyroid hormones, vitamin D, retinoic acid, and various other lipophilic molecules. Upon binding, nuclear receptors undergo conformational changes that facilitate their interaction with co-regulatory proteins and the DNA. This interaction results in the modulation of gene transcription, ultimately leading to alterations in protein expression and cellular responses. Examples of nuclear receptors include estrogen receptor (ER), androgen receptor (AR), glucocorticoid receptor (GR), thyroid hormone receptor (TR), vitamin D receptor (VDR), and peroxisome proliferator-activated receptors (PPARs).

Both cytoplasmic and nuclear receptors are essential components of cellular communication networks, allowing cells to respond appropriately to extracellular signals and maintain homeostasis. Dysregulation of these receptors has been implicated in various diseases, including cancer, diabetes, and autoimmune disorders.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Hyperargininemia is a rare genetic disorder characterized by an excess of arginine in the blood. Arginine is an amino acid, which are the building blocks of proteins. In hyperargininemia, there is a deficiency or dysfunction of the enzyme argininosuccinate synthetase, leading to an accumulation of arginine and related compounds in the body. This can cause various symptoms such as intellectual disability, seizures, spasticity, and feeding difficulties. It is inherited in an autosomal recessive manner, meaning that an individual must receive two copies of the defective gene (one from each parent) to develop the condition.

Iron metabolism disorders are a group of medical conditions that affect the body's ability to absorb, transport, store, or utilize iron properly. Iron is an essential nutrient that plays a crucial role in various bodily functions, including oxygen transportation and energy production. However, imbalances in iron levels can lead to several health issues.

There are two main types of iron metabolism disorders:

1. Iron deficiency anemia (IDA): This condition occurs when the body lacks adequate iron to produce sufficient amounts of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. Causes of IDA may include inadequate dietary iron intake, blood loss, or impaired iron absorption due to conditions like celiac disease or inflammatory bowel disease.
2. Hemochromatosis: This is a genetic disorder characterized by excessive absorption and accumulation of iron in various organs, including the liver, heart, and pancreas. Over time, this excess iron can lead to organ damage and diseases such as cirrhosis, heart failure, diabetes, and arthritis. Hemochromatosis is typically caused by mutations in the HFE gene, which regulates iron absorption in the intestines.

Other iron metabolism disorders include:

* Anemia of chronic disease (ACD): A type of anemia that occurs in individuals with chronic inflammation or infection, where iron is not efficiently used for hemoglobin production due to altered regulation.
* Sideroblastic anemias: These are rare disorders characterized by the abnormal formation of ringed sideroblasts (immature red blood cells containing iron-laden mitochondria) in the bone marrow, leading to anemia and other symptoms.
* Iron-refractory iron deficiency anemia (IRIDA): A rare inherited disorder caused by mutations in the TMPRSS6 gene, resulting in impaired regulation of hepcidin, a hormone that controls iron absorption and distribution in the body. This leads to both iron deficiency and iron overload.

Proper diagnosis and management of iron metabolism disorders are essential to prevent complications and maintain overall health. Treatment options may include dietary modifications, iron supplementation, phlebotomy (bloodletting), or chelation therapy, depending on the specific disorder and its severity.

Hyperlipidemias are a group of disorders characterized by an excess of lipids (fats) or lipoproteins in the blood. These include elevated levels of cholesterol, triglycerides, or both. Hyperlipidemias can be inherited (primary) or caused by other medical conditions (secondary). They are a significant risk factor for developing cardiovascular diseases, such as atherosclerosis and coronary artery disease.

There are two main types of lipids that are commonly measured in the blood: low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol, and high-density lipoprotein (HDL) cholesterol, known as "good" cholesterol. High levels of LDL cholesterol can lead to the formation of plaques in the arteries, which can narrow or block them and increase the risk of heart attack or stroke. On the other hand, high levels of HDL cholesterol are protective because they help remove LDL cholesterol from the bloodstream.

Triglycerides are another type of lipid that can be measured in the blood. Elevated triglyceride levels can also contribute to the development of cardiovascular disease, particularly when combined with high LDL cholesterol and low HDL cholesterol levels.

Hyperlipidemias are typically diagnosed through a blood test that measures the levels of various lipids and lipoproteins in the blood. Treatment may include lifestyle changes, such as following a healthy diet, getting regular exercise, losing weight, and quitting smoking, as well as medication to lower lipid levels if necessary.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Acyl-CoA dehydrogenase is a group of enzymes that play a crucial role in the body's energy production process. Specifically, they are involved in the breakdown of fatty acids within the cells.

More technically, acyl-CoA dehydrogenases catalyze the removal of electrons from the thiol group of acyl-CoAs, forming a trans-double bond and generating FADH2. This reaction is the first step in each cycle of fatty acid beta-oxidation, which occurs in the mitochondria of cells.

There are several different types of acyl-CoA dehydrogenases, each specific to breaking down different lengths of fatty acids. For example, very long-chain acyl-CoA dehydrogenase (VLCAD) is responsible for breaking down longer chain fatty acids, while medium-chain acyl-CoA dehydrogenase (MCAD) breaks down medium-length chains.

Deficiencies in these enzymes can lead to various metabolic disorders, such as MCAD deficiency or LC-FAOD (long-chain fatty acid oxidation disorders), which can cause symptoms like vomiting, lethargy, and muscle weakness, especially during periods of fasting or illness.

Bile acids and salts are naturally occurring steroidal compounds that play a crucial role in the digestion and absorption of lipids (fats) in the body. They are produced in the liver from cholesterol and then conjugated with glycine or taurine to form bile acids, which are subsequently converted into bile salts by the addition of a sodium or potassium ion.

Bile acids and salts are stored in the gallbladder and released into the small intestine during digestion, where they help emulsify fats, allowing them to be broken down into smaller molecules that can be absorbed by the body. They also aid in the elimination of waste products from the liver and help regulate cholesterol metabolism.

Abnormalities in bile acid synthesis or transport can lead to various medical conditions, such as cholestatic liver diseases, gallstones, and diarrhea. Therefore, understanding the role of bile acids and salts in the body is essential for diagnosing and treating these disorders.

Lipoprotein lipase (LPL) is an enzyme that plays a crucial role in the metabolism of lipids. It is responsible for breaking down triglycerides, which are the main constituent of dietary fats and chylomicrons, into fatty acids and glycerol. These products are then taken up by cells for energy production or storage.

LPL is synthesized in various tissues, including muscle and fat, where it is attached to the inner lining of blood vessels (endothelium). The enzyme is activated when it comes into contact with lipoprotein particles, such as chylomicrons and very-low-density lipoproteins (VLDL), which transport triglycerides in the bloodstream.

Deficiencies or mutations in LPL can lead to various metabolic disorders, including hypertriglyceridemia, a condition characterized by high levels of triglycerides in the blood. Conversely, overexpression of LPL has been associated with increased risk of atherosclerosis due to excessive uptake of fatty acids by macrophages and their conversion into foam cells, which contribute to plaque formation in the arteries.

"Failure to Thrive" is a medical term used to describe a condition in infants and children who are not growing and gaining weight as expected. It is typically defined as significant deviation from normal growth patterns, such as poor weight gain or loss, slow increase in length/height, and delayed developmental milestones. The condition can have various causes, including medical, psychological, social, and environmental factors. Early identification and intervention are crucial to address the underlying cause and promote healthy growth and development.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Obesity is a complex disease characterized by an excess accumulation of body fat to the extent that it negatively impacts health. It's typically defined using Body Mass Index (BMI), a measure calculated from a person's weight and height. A BMI of 30 or higher is indicative of obesity. However, it's important to note that while BMI can be a useful tool for identifying obesity in populations, it does not directly measure body fat and may not accurately reflect health status in individuals. Other factors such as waist circumference, blood pressure, cholesterol levels, and blood sugar levels should also be considered when assessing health risks associated with weight.

Orphan nuclear receptors are a subfamily of nuclear receptor proteins that are classified as "orphans" because their specific endogenous ligands (natural activating molecules) have not yet been identified. These receptors are still functional transcription factors, which means they can bind to specific DNA sequences and regulate the expression of target genes when activated by a ligand. However, in the case of orphan nuclear receptors, the identity of these ligands remains unknown or unconfirmed.

These receptors play crucial roles in various biological processes, including development, metabolism, and homeostasis. Some orphan nuclear receptors have been found to bind to synthetic ligands (man-made molecules), which has led to the development of potential therapeutic agents for various diseases. Over time, as research progresses, some orphan nuclear receptors may eventually have their endogenous ligands identified and be reclassified as non-orphan nuclear receptors.

Adipocytes are specialized cells that comprise adipose tissue, also known as fat tissue. They are responsible for storing energy in the form of lipids, particularly triglycerides, and releasing energy when needed through a process called lipolysis. There are two main types of adipocytes: white adipocytes and brown adipocytes. White adipocytes primarily store energy, while brown adipocytes dissipate energy as heat through the action of uncoupling protein 1 (UCP1).

In addition to their role in energy metabolism, adipocytes also secrete various hormones and signaling molecules that contribute to whole-body homeostasis. These include leptin, adiponectin, resistin, and inflammatory cytokines. Dysregulation of adipocyte function has been implicated in the development of obesity, insulin resistance, type 2 diabetes, and cardiovascular disease.

Long-chain-3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) is a mitochondrial enzyme that plays a crucial role in the beta-oxidation of fatty acids. Specifically, LCHAD catalyzes the third step of this process by oxidizing long-chain 3-hydroxyacyl-CoA molecules to 3-ketoacyl-CoAs, using NAD+ as an electron acceptor. This reaction is essential for generating energy in the form of ATP and reducing equivalents (NADH and FADH2) through the citric acid cycle.

Deficiencies in LCHAD can lead to a rare autosomal recessive disorder known as long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This condition impairs the body's ability to metabolize long-chain fatty acids, particularly during periods of fasting or increased energy demands. Symptoms can include hypoketotic hypoglycemia, muscle weakness, cardiomyopathy, and retinal damage, among others. Early diagnosis and management are crucial for improving outcomes in affected individuals.

Fatty liver, also known as hepatic steatosis, is a medical condition characterized by the abnormal accumulation of fat in the liver. The liver's primary function is to process nutrients, filter blood, and fight infections, among other tasks. When excess fat builds up in the liver cells, it can impair liver function and lead to inflammation, scarring, and even liver failure if left untreated.

Fatty liver can be caused by various factors, including alcohol consumption, obesity, nonalcoholic fatty liver disease (NAFLD), viral hepatitis, and certain medications or medical conditions. NAFLD is the most common cause of fatty liver in the United States and other developed countries, affecting up to 25% of the population.

Symptoms of fatty liver may include fatigue, weakness, weight loss, loss of appetite, nausea, abdominal pain or discomfort, and jaundice (yellowing of the skin and eyes). However, many people with fatty liver do not experience any symptoms, making it essential to diagnose and manage the condition through regular check-ups and blood tests.

Treatment for fatty liver depends on the underlying cause. Lifestyle changes such as weight loss, exercise, and dietary modifications are often recommended for people with NAFLD or alcohol-related fatty liver disease. Medications may also be prescribed to manage related conditions such as diabetes, high cholesterol, or metabolic syndrome. In severe cases of liver damage, a liver transplant may be necessary.

Gas Chromatography-Mass Spectrometry (GC-MS) is a powerful analytical technique that combines the separating power of gas chromatography with the identification capabilities of mass spectrometry. This method is used to separate, identify, and quantify different components in complex mixtures.

In GC-MS, the mixture is first vaporized and carried through a long, narrow column by an inert gas (carrier gas). The various components in the mixture interact differently with the stationary phase inside the column, leading to their separation based on their partition coefficients between the mobile and stationary phases. As each component elutes from the column, it is then introduced into the mass spectrometer for analysis.

The mass spectrometer ionizes the sample, breaks it down into smaller fragments, and measures the mass-to-charge ratio of these fragments. This information is used to generate a mass spectrum, which serves as a unique "fingerprint" for each compound. By comparing the generated mass spectra with reference libraries or known standards, analysts can identify and quantify the components present in the original mixture.

GC-MS has wide applications in various fields such as forensics, environmental analysis, drug testing, and research laboratories due to its high sensitivity, specificity, and ability to analyze volatile and semi-volatile compounds.

Alkaptonuria is a rare inherited metabolic disorder characterized by the accumulation of homogentisic acid in various tissues and body fluids due to a deficiency in the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency leads to an inability to break down tyrosine and phenylalanine amino acids properly, causing their byproduct, homogentisic acid, to build up in the body.

The accumulation of homogentisic acid can result in several clinical manifestations:

1. Dark urine: Homogentisic acid oxidizes and turns dark brown or black when exposed to air, giving the condition its name "alkaptonuria," derived from Greek words 'alos' (meaning 'strange') and 'kapto' (meaning 'I become black').
2. Arthritis: Over time, homogentisic acid deposits in connective tissues, particularly cartilage, causing damage and leading to a form of arthritis called ochronosis. This can result in stiffness, pain, and limited mobility in affected joints.
3. Heart problems: Homogentisic acid accumulation in heart valves may lead to thickening and calcification, potentially resulting in heart disease and valve dysfunction.
4. Kidney stones: The accumulation of homogentisic acid can form kidney stones, which can cause pain and potential kidney damage if they become lodged in the urinary tract.

There is no cure for alkaptonuria; however, treatment aims to manage symptoms and slow disease progression. A low-protein diet may help reduce tyrosine and phenylalanine intake, while increased hydration can help prevent kidney stone formation. Nitisinone, a medication that inhibits the production of homogentisic acid, has shown promise in managing alkaptonuria symptoms. Regular monitoring and early intervention are crucial to minimize complications associated with this rare condition.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

A rare disease, also known as an orphan disease, is a health condition that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. There are over 7,000 rare diseases identified, and many of them are severe, chronic, and often life-threatening. The causes of rare diseases can be genetic, infectious, environmental, or degenerative. Due to their rarity, research on rare diseases is often underfunded, and treatments may not be available or well-studied. Additionally, the diagnosis of rare diseases can be challenging due to a lack of awareness and understanding among healthcare professionals.

A diet, in medical terms, refers to the planned and regular consumption of food and drinks. It is a balanced selection of nutrient-rich foods that an individual eats on a daily or periodic basis to meet their energy needs and maintain good health. A well-balanced diet typically includes a variety of fruits, vegetables, whole grains, lean proteins, and low-fat dairy products.

A diet may also be prescribed for therapeutic purposes, such as in the management of certain medical conditions like diabetes, hypertension, or obesity. In these cases, a healthcare professional may recommend specific restrictions or modifications to an individual's regular diet to help manage their condition and improve their overall health.

It is important to note that a healthy and balanced diet should be tailored to an individual's age, gender, body size, activity level, and any underlying medical conditions. Consulting with a healthcare professional, such as a registered dietitian or nutritionist, can help ensure that an individual's dietary needs are being met in a safe and effective way.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Citrullinemia is a rare inherited metabolic disorder characterized by the body's inability to properly process and eliminate certain toxic byproducts that are generated during the breakdown of proteins. This condition results from a deficiency of the enzyme argininosuccinate synthetase, which is required for the normal functioning of the urea cycle. The urea cycle is a series of biochemical reactions that occur in the liver and help to convert ammonia, a toxic substance, into urea, which can then be excreted by the kidneys.

There are two main types of citrullinemia: type I (also known as classic citrullinemia) and type II (also known as citrullinemia type II or adult-onset citrullinemia). Type I is typically more severe and can present in newborns with symptoms such as poor feeding, vomiting, seizures, and developmental delays. If left untreated, it can lead to serious complications, including intellectual disability, coma, and even death.

Type II citrullinemia, on the other hand, tends to present later in life, often in adulthood, and may cause symptoms such as confusion, seizures, and neurological problems. It is important to note that some individuals with type II citrullinemia may never develop any symptoms at all.

Treatment for citrullinemia typically involves a combination of dietary restrictions, supplements, and medications to help manage the buildup of toxic byproducts in the body. In severe cases, liver transplantation may be considered as a last resort.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency (MADD) is a rare inherited metabolic disorder that affects the body's ability to break down certain fats and proteins. It is caused by mutations in genes that code for enzymes involved in the electron transfer flavoprotein-ubiquinone (ETF-QO) complex, which is responsible for transferring electrons from various acyl-CoA dehydrogenases to the electron transport chain during fatty acid and amino acid oxidation.

As a result of these genetic defects, there is a buildup of unoxidized acyl-CoA molecules in the body, leading to the accumulation of toxic intermediates that can damage organs and tissues. This can cause a wide range of symptoms, including hypoglycemia, metabolic acidosis, cardiac arrhythmias, muscle weakness, and developmental delays.

MADD is typically classified into three types based on the age of onset and severity of symptoms: neonatal, infantile, and late-onset. The neonatal form is the most severe and often leads to death in early infancy, while the infantile and late-onset forms can present with milder symptoms that may not become apparent until later in life.

Treatment for MADD typically involves a combination of dietary modifications, such as restricting long-chain fatty acids and supplementing with medium-chain triglycerides, and oral supplementation with riboflavin (vitamin B2), which has been shown to improve the activity of the ETF-QO complex in some cases.

Acetates, in a medical context, most commonly refer to compounds that contain the acetate group, which is an functional group consisting of a carbon atom bonded to two hydrogen atoms and an oxygen atom (-COO-). An example of an acetate is sodium acetate (CH3COONa), which is a salt formed from acetic acid (CH3COOH) and is often used as a buffering agent in medical solutions.

Acetates can also refer to a group of medications that contain acetate as an active ingredient, such as magnesium acetate, which is used as a laxative, or calcium acetate, which is used to treat high levels of phosphate in the blood.

In addition, acetates can also refer to a process called acetylation, which is the addition of an acetyl group (-COCH3) to a molecule. This process can be important in the metabolism and regulation of various substances within the body.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Homeostasis is a fundamental concept in the field of medicine and physiology, referring to the body's ability to maintain a stable internal environment, despite changes in external conditions. It is the process by which biological systems regulate their internal environment to remain in a state of dynamic equilibrium. This is achieved through various feedback mechanisms that involve sensors, control centers, and effectors, working together to detect, interpret, and respond to disturbances in the system.

For example, the body maintains homeostasis through mechanisms such as temperature regulation (through sweating or shivering), fluid balance (through kidney function and thirst), and blood glucose levels (through insulin and glucagon secretion). When homeostasis is disrupted, it can lead to disease or dysfunction in the body.

In summary, homeostasis is the maintenance of a stable internal environment within biological systems, through various regulatory mechanisms that respond to changes in external conditions.

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific enzymes needed to break down complex sugars called glycosaminoglycans (GAGs or mucopolysaccharides). As a result, these GAGs accumulate in various tissues and organs, leading to progressive cellular damage and multi-organ dysfunction. There are several types of MPS, including Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Morquio syndrome, Maroteaux-Lamy syndrome, and Sly syndrome, each resulting from a deficiency in one of the eleven different enzymes involved in GAGs metabolism. The clinical presentation, severity, and prognosis vary among the types but commonly include features such as developmental delay, coarse facial features, skeletal abnormalities, hearing loss, heart problems, and reduced life expectancy.

Hepatocytes are the predominant type of cells in the liver, accounting for about 80% of its cytoplasmic mass. They play a key role in protein synthesis, protein storage, transformation of carbohydrates, synthesis of cholesterol, bile salts and phospholipids, detoxification, modification, and excretion of exogenous and endogenous substances, initiation of formation and secretion of bile, and enzyme production. Hepatocytes are essential for the maintenance of homeostasis in the body.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

Lipase is an enzyme that is produced by the pancreas and found in the digestive system of most organisms. Its primary function is to catalyze the hydrolysis of fats (triglycerides) into smaller molecules, such as fatty acids and glycerol, which can then be absorbed by the intestines and utilized for energy or stored for later use.

In medical terms, lipase levels in the blood are often measured to diagnose or monitor conditions that affect the pancreas, such as pancreatitis (inflammation of the pancreas), pancreatic cancer, or cystic fibrosis. Elevated lipase levels may indicate damage to the pancreas and its ability to produce digestive enzymes.

HDL (High-Density Lipoprotein) cholesterol is often referred to as "good" cholesterol. It is a type of lipoprotein that helps remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. High levels of HDL cholesterol have been associated with a lower risk of heart disease and stroke.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.

The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.

It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.

A high-fat diet is a type of eating plan that derives a significant proportion of its daily caloric intake from fat sources. While there is no universally agreed-upon definition for what constitutes a high-fat diet, it generally refers to diets in which total fat intake provides more than 30-35% of the total daily calories.

High-fat diets can vary widely in their specific composition and may include different types of fats, such as saturated, monounsaturated, polyunsaturated, and trans fats. Some high-fat diets emphasize the consumption of whole, unprocessed foods that are naturally high in fat, like nuts, seeds, avocados, fish, and olive oil. Others may allow for or even encourage the inclusion of processed and high-fat animal products, such as red meat, butter, and full-fat dairy.

It's important to note that not all high-fat diets are created equal, and some may be more healthful than others depending on their specific composition and the individual's overall dietary patterns. Some research suggests that high-fat diets that are low in carbohydrates and moderate in protein may offer health benefits for weight loss, blood sugar control, and cardiovascular risk factors, while other studies have raised concerns about the potential negative effects of high-fat diets on heart health and metabolic function.

As with any dietary approach, it's important to consult with a healthcare provider or registered dietitian before making significant changes to your eating habits, especially if you have any underlying medical conditions or are taking medications that may be affected by dietary changes.

Thin-layer chromatography (TLC) is a type of chromatography used to separate, identify, and quantify the components of a mixture. In TLC, the sample is applied as a small spot onto a thin layer of adsorbent material, such as silica gel or alumina, which is coated on a flat, rigid support like a glass plate. The plate is then placed in a developing chamber containing a mobile phase, typically a mixture of solvents.

As the mobile phase moves up the plate by capillary action, it interacts with the stationary phase and the components of the sample. Different components of the mixture travel at different rates due to their varying interactions with the stationary and mobile phases, resulting in distinct spots on the plate. The distance each component travels can be measured and compared to known standards to identify and quantify the components of the mixture.

TLC is a simple, rapid, and cost-effective technique that is widely used in various fields, including forensics, pharmaceuticals, and research laboratories. It allows for the separation and analysis of complex mixtures with high resolution and sensitivity, making it an essential tool in many analytical applications.

Oxidoreductases are a class of enzymes that catalyze oxidation-reduction reactions, which involve the transfer of electrons from one molecule (the reductant) to another (the oxidant). These enzymes play a crucial role in various biological processes, including energy production, metabolism, and detoxification.

The oxidoreductase-catalyzed reaction typically involves the donation of electrons from a reducing agent (donor) to an oxidizing agent (acceptor), often through the transfer of hydrogen atoms or hydride ions. The enzyme itself does not undergo any permanent chemical change during this process, but rather acts as a catalyst to lower the activation energy required for the reaction to occur.

Oxidoreductases are classified and named based on the type of electron donor or acceptor involved in the reaction. For example, oxidoreductases that act on the CH-OH group of donors are called dehydrogenases, while those that act on the aldehyde or ketone groups are called oxidases. Other examples include reductases, peroxidases, and catalases.

Understanding the function and regulation of oxidoreductases is important for understanding various physiological processes and developing therapeutic strategies for diseases associated with impaired redox homeostasis, such as cancer, neurodegenerative disorders, and cardiovascular disease.

Membrane microdomains, also known as lipid rafts, are specialized microenvironments within the cell membrane. They are characterized by the presence of sphingolipids, cholesterol, and specific proteins that cluster together, forming dynamic, heterogeneous, and highly organized domains. These microdomains are involved in various cellular processes such as signal transduction, membrane trafficking, and pathogen entry. However, it's important to note that the existence and function of membrane microdomains are still subjects of ongoing research and debate within the scientific community.

Tandem mass spectrometry (MS/MS) is a technique used to identify and quantify specific molecules, such as proteins or metabolites, within complex mixtures. This method uses two or more sequential mass analyzers to first separate ions based on their mass-to-charge ratio and then further fragment the selected ions into smaller pieces for additional analysis. The fragmentation patterns generated in MS/MS experiments can be used to determine the structure and identity of the original molecule, making it a powerful tool in various fields such as proteomics, metabolomics, and forensic science.

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Lysosomes are membrane-bound organelles within cells that contain enzymes responsible for breaking down and recycling various biomolecules, such as proteins, lipids, and carbohydrates. In LSDs, the absence or deficiency of specific lysosomal enzymes leads to the accumulation of undigested substrates within the lysosomes, resulting in cellular dysfunction and organ damage.

These disorders can affect various organs and systems in the body, including the brain, nervous system, bones, skin, and visceral organs. Symptoms may include developmental delays, neurological impairment, motor dysfunction, bone abnormalities, coarse facial features, hepatosplenomegaly (enlarged liver and spleen), and recurrent infections.

Examples of LSDs include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, Pompe disease, and mucopolysaccharidoses (MPS). Treatment options for LSDs may include enzyme replacement therapy, substrate reduction therapy, or bone marrow transplantation. Early diagnosis and intervention can help improve the prognosis and quality of life for affected individuals.

Adenylosuccinate Lyase is a crucial enzyme in the purine nucleotide biosynthesis pathway. Its primary function is to catalyze the conversion of adenylosuccinate into adenosine monophosphate (AMP) and fumarate in two consecutive steps. This enzyme plays an essential role in the metabolism of purines, which are vital components of DNA, RNA, and energy transfer molecules like ATP. Deficiency in this enzyme can lead to a rare genetic disorder known as Adenylosuccinase Deficiency or Adenylosuccinate Lyase Deficiency, characterized by neurological symptoms, developmental delays, and physical disabilities.

High-performance liquid chromatography (HPLC) is a type of chromatography that separates and analyzes compounds based on their interactions with a stationary phase and a mobile phase under high pressure. The mobile phase, which can be a gas or liquid, carries the sample mixture through a column containing the stationary phase.

In HPLC, the mobile phase is a liquid, and it is pumped through the column at high pressures (up to several hundred atmospheres) to achieve faster separation times and better resolution than other types of liquid chromatography. The stationary phase can be a solid or a liquid supported on a solid, and it interacts differently with each component in the sample mixture, causing them to separate as they travel through the column.

HPLC is widely used in analytical chemistry, pharmaceuticals, biotechnology, and other fields to separate, identify, and quantify compounds present in complex mixtures. It can be used to analyze a wide range of substances, including drugs, hormones, vitamins, pigments, flavors, and pollutants. HPLC is also used in the preparation of pure samples for further study or use.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Glycerol, also known as glycerine or glycerin, is a simple polyol (a sugar alcohol) with a sweet taste and a thick, syrupy consistency. It is a colorless, odorless, viscous liquid that is slightly soluble in water and freely miscible with ethanol and ether.

In the medical field, glycerol is often used as a medication or supplement. It can be used as a laxative to treat constipation, as a source of calories and energy for people who cannot eat by mouth, and as a way to prevent dehydration in people with certain medical conditions.

Glycerol is also used in the production of various medical products, such as medications, skin care products, and vaccines. It acts as a humectant, which means it helps to keep things moist, and it can also be used as a solvent or preservative.

In addition to its medical uses, glycerol is also widely used in the food industry as a sweetener, thickening agent, and moisture-retaining agent. It is generally recognized as safe (GRAS) by the U.S. Food and Drug Administration (FDA).

Peroxisome Proliferator-Activated Receptors (PPARs) are a group of nuclear receptor proteins that function as transcription factors, regulating the expression of specific genes. They play crucial roles in the regulation of energy homeostasis, lipid metabolism, glucose homeostasis, and inflammation.

There are three major subtypes of PPARs: PPAR-α, PPAR-β/δ, and PPAR-γ. These subtypes have different tissue distributions and functions:

1. PPAR-α: Predominantly expressed in the liver, heart, kidney, and brown adipose tissue. It regulates fatty acid oxidation, lipoprotein metabolism, and glucose homeostasis.
2. PPAR-β/δ: Expressed more widely in various tissues, including the brain, muscle, adipose tissue, and skin. It is involved in fatty acid oxidation, cell differentiation, and wound healing.
3. PPAR-γ: Primarily expressed in adipose tissue, macrophages, and the colon. It plays a central role in adipocyte differentiation, lipid storage, insulin sensitivity, and inflammation.

PPARs are activated by specific ligands, such as fatty acids, eicosanoids, and synthetic compounds like fibrates (PPAR-α agonists) and thiazolidinediones (PPAR-γ agonists). These agonists have been used in the treatment of metabolic disorders, including dyslipidemia and type 2 diabetes.

Pyruvate Dehydrogenase Complex (PDH) Deficiency is a genetic disorder that affects the body's ability to convert certain food molecules into energy. The pyruvate dehydrogenase complex is a group of enzymes that converts pyruvate, a byproduct of glucose metabolism in the cell's cytoplasm, into acetyl-CoA, which then enters the citric acid cycle (also known as the Krebs cycle) in the mitochondria to produce energy in the form of ATP.

PDH deficiency results from mutations in one or more genes encoding the subunits of the PDH complex or its activators, leading to reduced enzymatic activity. This impairs the conversion of pyruvate to acetyl-CoA and causes an accumulation of pyruvate in body tissues and fluids, particularly during periods of metabolic stress such as illness, infection, or fasting.

The severity of PDH deficiency can vary widely, from mild to severe forms, depending on the extent of enzyme dysfunction. Symptoms may include developmental delay, hypotonia (low muscle tone), seizures, poor feeding, and metabolic acidosis. In severe cases, it can lead to neurological damage, lactic acidosis, and early death if not diagnosed and treated promptly.

PDH deficiency is typically diagnosed through biochemical tests that measure the activity of the PDH complex in cultured skin fibroblasts or muscle tissue. Genetic testing may also be used to identify specific gene mutations causing the disorder. Treatment usually involves a low-carbohydrate, high-fat diet and supplementation with thiamine (vitamin B1), which is an essential cofactor for PDH complex activity. In some cases, dialysis or other supportive measures may be necessary to manage metabolic acidosis and other complications.

Ornithine-oxo-acid transaminase (OAT), also known as ornithine aminotransferase, is a urea cycle enzyme that catalyzes the reversible transfer of an amino group from ornithine to α-ketoglutarate, producing glutamate semialdehyde and glutamate. This reaction is an essential part of the urea cycle, which is responsible for the detoxification of ammonia in the body. Deficiencies in OAT can lead to a genetic disorder called ornithine transcarbamylase deficiency (OTCD), which can cause hyperammonemia and neurological symptoms.

Fasting is defined in medical terms as the abstinence from food or drink for a period of time. This practice is often recommended before certain medical tests or procedures, as it helps to ensure that the results are not affected by recent eating or drinking.

In some cases, fasting may also be used as a therapeutic intervention, such as in the management of seizures or other neurological conditions. Fasting can help to lower blood sugar and insulin levels, which can have a variety of health benefits. However, it is important to note that prolonged fasting can also have negative effects on the body, including malnutrition, dehydration, and electrolyte imbalances.

Fasting is also a spiritual practice in many religions, including Christianity, Islam, Buddhism, and Hinduism. In these contexts, fasting is often seen as a way to purify the mind and body, to focus on spiritual practices, or to express devotion or mourning.

"Wistar rats" are a strain of albino rats that are widely used in laboratory research. They were developed at the Wistar Institute in Philadelphia, USA, and were first introduced in 1906. Wistar rats are outbred, which means that they are genetically diverse and do not have a fixed set of genetic characteristics like inbred strains.

Wistar rats are commonly used as animal models in biomedical research because of their size, ease of handling, and relatively low cost. They are used in a wide range of research areas, including toxicology, pharmacology, nutrition, cancer, cardiovascular disease, and behavioral studies. Wistar rats are also used in safety testing of drugs, medical devices, and other products.

Wistar rats are typically larger than many other rat strains, with males weighing between 500-700 grams and females weighing between 250-350 grams. They have a lifespan of approximately 2-3 years. Wistar rats are also known for their docile and friendly nature, making them easy to handle and work with in the laboratory setting.

Sterol Regulatory Element Binding Proteins (SREBPs) are a family of transcription factors that play crucial roles in regulating the synthesis and uptake of cholesterol, fatty acids, triglycerides, and other lipids in the body. They do so by controlling the expression of genes involved in these metabolic pathways.

SREBPs are activated in response to low cellular levels of cholesterol or fatty acids. When activated, they bind to specific DNA sequences called sterol regulatory elements (SREs) in the promoter regions of their target genes, promoting their transcription and leading to increased synthesis and uptake of lipids.

There are three main isoforms of SREBPs: SREBP-1a, SREBP-1c, and SREBP-2. SREBP-1a and SREBP-1c primarily regulate the expression of genes involved in fatty acid synthesis, while SREBP-2 mainly regulates cholesterol synthesis and uptake. Dysregulation of SREBP activity has been implicated in various metabolic disorders, including obesity, insulin resistance, and atherosclerosis.

Microsomes, liver refers to a subcellular fraction of liver cells (hepatocytes) that are obtained during tissue homogenization and subsequent centrifugation. These microsomal fractions are rich in membranous structures known as the endoplasmic reticulum (ER), particularly the rough ER. They are involved in various important cellular processes, most notably the metabolism of xenobiotics (foreign substances) including drugs, toxins, and carcinogens.

The liver microsomes contain a variety of enzymes, such as cytochrome P450 monooxygenases, that are crucial for phase I drug metabolism. These enzymes help in the oxidation, reduction, or hydrolysis of xenobiotics, making them more water-soluble and facilitating their excretion from the body. Additionally, liver microsomes also host other enzymes involved in phase II conjugation reactions, where the metabolites from phase I are further modified by adding polar molecules like glucuronic acid, sulfate, or acetyl groups.

In summary, liver microsomes are a subcellular fraction of liver cells that play a significant role in the metabolism and detoxification of xenobiotics, contributing to the overall protection and maintenance of cellular homeostasis within the body.

Neuroaxonal dystrophies (NADs) are a group of inherited neurological disorders characterized by degeneration of the neuronal axons, which are the long extensions of nerve cells that transmit impulses to other cells. This degeneration leads to progressive loss of motor and cognitive functions.

The term "neuroaxonal dystrophy" refers to a specific pattern of abnormalities seen on electron microscopy in nerve cells, including accumulation of membranous structures called "spheroids" or "tubulovesicular structures" within the axons.

NADs can be caused by mutations in various genes that play a role in maintaining the structure and function of neuronal axons. The most common forms of NADs include Infantile Neuroaxonal Dystrophy (INAD) or Seitelberger's Disease, and Late-Onset Neuroaxonal Dystrophy (LONAD).

Symptoms of INAD typically begin between ages 6 months and 2 years, and may include muscle weakness, hypotonia, decreased reflexes, vision loss, hearing impairment, and developmental delay. LONAD usually presents in childhood or adolescence with symptoms such as ataxia, dysarthria, cognitive decline, and behavioral changes.

Currently, there is no cure for NADs, and treatment is focused on managing symptoms and improving quality of life.

Unsaturated fatty acids are a type of fatty acid that contain one or more double bonds in their carbon chain. These double bonds can be either cis or trans configurations, although the cis configuration is more common in nature. The presence of these double bonds makes unsaturated fatty acids more liquid at room temperature and less prone to spoilage than saturated fatty acids, which do not have any double bonds.

Unsaturated fatty acids can be further classified into two main categories: monounsaturated fatty acids (MUFAs) and polyunsaturated fatty acids (PUFAs). MUFAs contain one double bond in their carbon chain, while PUFAs contain two or more.

Examples of unsaturated fatty acids include oleic acid (a MUFA found in olive oil), linoleic acid (a PUFA found in vegetable oils), and alpha-linolenic acid (an omega-3 PUFA found in flaxseed and fish). Unsaturated fatty acids are essential nutrients for the human body, as they play important roles in various physiological processes such as membrane structure, inflammation, and blood clotting. It is recommended to consume a balanced diet that includes both MUFAs and PUFAs to maintain good health.

Oleic acid is a monounsaturated fatty acid that is commonly found in various natural oils such as olive oil, sunflower oil, and peanut oil. Its chemical formula is cis-9-octadecenoic acid, and it is a colorless liquid at room temperature with a slight odor. Oleic acid is an important component of human diet and has been shown to have various health benefits, including reducing the risk of heart disease and improving immune function. It is also used in the manufacture of soaps, cosmetics, and other industrial products.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Sprague-Dawley rats are a strain of albino laboratory rats that are widely used in scientific research. They were first developed by researchers H.H. Sprague and R.C. Dawley in the early 20th century, and have since become one of the most commonly used rat strains in biomedical research due to their relatively large size, ease of handling, and consistent genetic background.

Sprague-Dawley rats are outbred, which means that they are genetically diverse and do not suffer from the same limitations as inbred strains, which can have reduced fertility and increased susceptibility to certain diseases. They are also characterized by their docile nature and low levels of aggression, making them easier to handle and study than some other rat strains.

These rats are used in a wide variety of research areas, including toxicology, pharmacology, nutrition, cancer, and behavioral studies. Because they are genetically diverse, Sprague-Dawley rats can be used to model a range of human diseases and conditions, making them an important tool in the development of new drugs and therapies.

Primary hyperoxaluria is a rare genetic disorder characterized by overproduction of oxalate in the body due to mutations in specific enzymes involved in oxalate metabolism. There are three types of primary hyperoxaluria (PH1, PH2, and PH3), with PH1 being the most common and severe form.

In primary hyperoxaluria type 1 (PH1), there is a deficiency or dysfunction in the enzyme alanine-glyoxylate aminotransferase (AGT), which leads to an accumulation of glyoxylate. Glyoxylate is then converted to oxalate, resulting in increased oxalate production. Oxalate is a compound that naturally occurs in the body but is primarily excreted through the kidneys. When there is an overproduction of oxalate, it can lead to the formation of calcium oxalate crystals in various tissues, including the kidneys. This can cause recurrent kidney stones, nephrocalcinosis (calcium deposits in the kidneys), and eventually chronic kidney disease or end-stage renal failure.

Primary hyperoxaluria type 2 (PH2) is caused by a deficiency or dysfunction in the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR), leading to an accumulation of glyoxylate, which is subsequently converted to oxalate. PH2 has a milder clinical presentation compared to PH1.

Primary hyperoxaluria type 3 (PH3) is a rare form caused by mutations in the gene HOGA1, which encodes for 4-hydroxy-2-oxoglutarate aldolase. This enzyme deficiency results in an increase in glyoxylate and, subsequently, oxalate production.

Early diagnosis and management of primary hyperoxaluria are crucial to prevent or slow down the progression of kidney damage. Treatment options include increased fluid intake, medications to reduce stone formation (such as potassium citrate), and in some cases, liver-kidney transplantation.

Glycolysis is a fundamental metabolic pathway that occurs in the cytoplasm of cells, consisting of a series of biochemical reactions. It's the process by which a six-carbon glucose molecule is broken down into two three-carbon pyruvate molecules. This process generates a net gain of two ATP molecules (the main energy currency in cells), two NADH molecules, and two water molecules.

Glycolysis can be divided into two stages: the preparatory phase (or 'energy investment' phase) and the payoff phase (or 'energy generation' phase). During the preparatory phase, glucose is phosphorylated twice to form glucose-6-phosphate and then converted to fructose-1,6-bisphosphate. These reactions consume two ATP molecules but set up the subsequent breakdown of fructose-1,6-bisphosphate into triose phosphates in the payoff phase. In this second stage, each triose phosphate is further oxidized and degraded to produce one pyruvate molecule, one NADH molecule, and one ATP molecule through substrate-level phosphorylation.

Glycolysis does not require oxygen to proceed; thus, it can occur under both aerobic (with oxygen) and anaerobic (without oxygen) conditions. In the absence of oxygen, the pyruvate produced during glycolysis is further metabolized through fermentation pathways such as lactic acid fermentation or alcohol fermentation to regenerate NAD+, which is necessary for glycolysis to continue.

In summary, glycolysis is a crucial process in cellular energy metabolism, allowing cells to convert glucose into ATP and other essential molecules while also serving as a starting point for various other biochemical pathways.

Inborn genetic diseases, also known as inherited genetic disorders, are conditions caused by abnormalities in an individual's DNA that are present at conception. These abnormalities can include mutations, deletions, or rearrangements of genes or chromosomes. In many cases, these genetic changes are inherited from one or both parents and may be passed down through families.

Inborn genetic diseases can affect any part of the body and can cause a wide range of symptoms, which can vary in severity depending on the specific disorder. Some genetic disorders are caused by mutations in a single gene, while others are caused by changes in multiple genes or chromosomes. In some cases, environmental factors may also contribute to the development of these conditions.

Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Duchenne muscular dystrophy, and Down syndrome. These conditions can have significant impacts on an individual's health and quality of life, and many require ongoing medical management and treatment. In some cases, genetic counseling and testing may be recommended for individuals with a family history of a particular genetic disorder to help them make informed decisions about their reproductive options.

The Cytochrome P-450 (CYP450) enzyme system is a group of enzymes found primarily in the liver, but also in other organs such as the intestines, lungs, and skin. These enzymes play a crucial role in the metabolism and biotransformation of various substances, including drugs, environmental toxins, and endogenous compounds like hormones and fatty acids.

The name "Cytochrome P-450" refers to the unique property of these enzymes to bind to carbon monoxide (CO) and form a complex that absorbs light at a wavelength of 450 nm, which can be detected spectrophotometrically.

The CYP450 enzyme system is involved in Phase I metabolism of xenobiotics, where it catalyzes oxidation reactions such as hydroxylation, dealkylation, and epoxidation. These reactions introduce functional groups into the substrate molecule, which can then undergo further modifications by other enzymes during Phase II metabolism.

There are several families and subfamilies of CYP450 enzymes, each with distinct substrate specificities and functions. Some of the most important CYP450 enzymes include:

1. CYP3A4: This is the most abundant CYP450 enzyme in the human liver and is involved in the metabolism of approximately 50% of all drugs. It also metabolizes various endogenous compounds like steroids, bile acids, and vitamin D.
2. CYP2D6: This enzyme is responsible for the metabolism of many psychotropic drugs, including antidepressants, antipsychotics, and beta-blockers. It also metabolizes some endogenous compounds like dopamine and serotonin.
3. CYP2C9: This enzyme plays a significant role in the metabolism of warfarin, phenytoin, and nonsteroidal anti-inflammatory drugs (NSAIDs).
4. CYP2C19: This enzyme is involved in the metabolism of proton pump inhibitors, antidepressants, and clopidogrel.
5. CYP2E1: This enzyme metabolizes various xenobiotics like alcohol, acetaminophen, and carbon tetrachloride, as well as some endogenous compounds like fatty acids and prostaglandins.

Genetic polymorphisms in CYP450 enzymes can significantly affect drug metabolism and response, leading to interindividual variability in drug efficacy and toxicity. Understanding the role of CYP450 enzymes in drug metabolism is crucial for optimizing pharmacotherapy and minimizing adverse effects.

LDL, or low-density lipoprotein, is often referred to as "bad" cholesterol. It is one of the lipoproteins that helps carry cholesterol throughout your body. High levels of LDL cholesterol can lead to a buildup of cholesterol in your arteries, which can increase the risk of heart disease and stroke.

Cholesterol is a type of fat (lipid) that is found in the cells of your body. Your body needs some cholesterol to function properly, but having too much can lead to health problems. LDL cholesterol is one of the two main types of cholesterol; the other is high-density lipoprotein (HDL), or "good" cholesterol.

It's important to keep your LDL cholesterol levels in a healthy range to reduce your risk of developing heart disease and stroke. A healthcare professional can help you determine what your target LDL cholesterol level should be based on your individual health status and risk factors.

Carbon radioisotopes are radioactive isotopes of carbon, which is an naturally occurring chemical element with the atomic number 6. The most common and stable isotope of carbon is carbon-12 (^12C), but there are also several radioactive isotopes, including carbon-11 (^11C), carbon-14 (^14C), and carbon-13 (^13C). These radioisotopes have different numbers of neutrons in their nuclei, which makes them unstable and causes them to emit radiation.

Carbon-11 has a half-life of about 20 minutes and is used in medical imaging techniques such as positron emission tomography (PET) scans. It is produced by bombarding nitrogen-14 with protons in a cyclotron.

Carbon-14, also known as radiocarbon, has a half-life of about 5730 years and is used in archaeology and geology to date organic materials. It is produced naturally in the atmosphere by cosmic rays.

Carbon-13 is stable and has a natural abundance of about 1.1% in carbon. It is not radioactive, but it can be used as a tracer in medical research and in the study of metabolic processes.

The medical definition of "eating" refers to the process of consuming and ingesting food or nutrients into the body. This process typically involves several steps, including:

1. Food preparation: This may involve cleaning, chopping, cooking, or combining ingredients to make them ready for consumption.
2. Ingestion: The act of taking food or nutrients into the mouth and swallowing it.
3. Digestion: Once food is ingested, it travels down the esophagus and enters the stomach, where it is broken down by enzymes and acids to facilitate absorption of nutrients.
4. Absorption: Nutrients are absorbed through the walls of the small intestine and transported to cells throughout the body for use as energy or building blocks for growth and repair.
5. Elimination: Undigested food and waste products are eliminated from the body through the large intestine (colon) and rectum.

Eating is an essential function that provides the body with the nutrients it needs to maintain health, grow, and repair itself. Disorders of eating, such as anorexia nervosa or bulimia nervosa, can have serious consequences for physical and mental health.

Biological transport refers to the movement of molecules, ions, or solutes across biological membranes or through cells in living organisms. This process is essential for maintaining homeostasis, regulating cellular functions, and enabling communication between cells. There are two main types of biological transport: passive transport and active transport.

Passive transport does not require the input of energy and includes:

1. Diffusion: The random movement of molecules from an area of high concentration to an area of low concentration until equilibrium is reached.
2. Osmosis: The diffusion of solvent molecules (usually water) across a semi-permeable membrane from an area of lower solute concentration to an area of higher solute concentration.
3. Facilitated diffusion: The assisted passage of polar or charged substances through protein channels or carriers in the cell membrane, which increases the rate of diffusion without consuming energy.

Active transport requires the input of energy (in the form of ATP) and includes:

1. Primary active transport: The direct use of ATP to move molecules against their concentration gradient, often driven by specific transport proteins called pumps.
2. Secondary active transport: The coupling of the movement of one substance down its electrochemical gradient with the uphill transport of another substance, mediated by a shared transport protein. This process is also known as co-transport or counter-transport.

Adipose tissue, white is a type of fatty tissue in the body that functions as the primary form of energy storage. It is composed of adipocytes, which are specialized cells that store energy in the form of lipids, primarily triglycerides. The main function of white adipose tissue is to provide energy to the body during periods of fasting or exercise by releasing free fatty acids into the bloodstream. It also plays a crucial role in maintaining homeostasis by regulating metabolism, insulin sensitivity, and inflammation. White adipose tissue can be found throughout the body, including beneath the skin (subcutaneous) and surrounding internal organs (visceral).

Hypolipidemic agents are a class of medications that are used to lower the levels of lipids (fats) in the blood, particularly cholesterol and triglycerides. These drugs work by reducing the production or increasing the breakdown of fats in the body, which can help prevent or treat conditions such as hyperlipidemia (high levels of fats in the blood), atherosclerosis (hardening and narrowing of the arteries), and cardiovascular disease.

There are several different types of hypolipidemic agents, including:

1. Statins: These drugs block the action of an enzyme called HMG-CoA reductase, which is necessary for the production of cholesterol in the liver. By reducing the amount of cholesterol produced, statins can help lower LDL (bad) cholesterol levels and increase HDL (good) cholesterol levels.
2. Bile acid sequestrants: These drugs bind to bile acids in the intestines and prevent them from being reabsorbed into the bloodstream. This causes the liver to produce more bile acids, which requires it to use up more cholesterol, thereby lowering LDL cholesterol levels.
3. Nicotinic acid: Also known as niacin, this drug can help lower LDL and VLDL (very low-density lipoprotein) cholesterol levels and increase HDL cholesterol levels. It works by reducing the production of fatty acids in the liver.
4. Fibrates: These drugs are used to treat high triglyceride levels. They work by increasing the breakdown of fats in the body and reducing the production of VLDL cholesterol in the liver.
5. PCSK9 inhibitors: These drugs block the action of a protein called PCSK9, which helps regulate the amount of LDL cholesterol in the blood. By blocking PCSK9, these drugs can help lower LDL cholesterol levels.

It's important to note that hypolipidemic agents should only be used under the guidance and supervision of a healthcare provider, as they can have side effects and may interact with other medications.

A protein-restricted diet is a medical nutrition plan that limits the daily intake of protein. This type of diet may be recommended for individuals with certain kidney or liver disorders, as reducing protein intake can help decrease the workload on these organs and prevent further damage. The specific amount of protein restriction will depend on the individual's medical condition, overall health status, and prescribing healthcare professional's guidance.

It is essential to ensure that a protein-restricted diet is nutritionally adequate and balanced, providing sufficient calories, carbohydrates, fats, vitamins, and minerals. A registered dietitian or nutritionist should closely supervise the implementation of such a diet to prevent potential nutrient deficiencies and other related complications. In some cases, medical supplements may be necessary to meet the individual's nutritional requirements.

Individuals on a protein-restricted diet should avoid high-protein foods like meat, poultry, fish, eggs, dairy products, legumes, and nuts. Instead, they should focus on consuming low-protein or protein-free alternatives, such as fruits, vegetables, refined grains, and specific medical food products designed for individuals with special dietary needs.

It is crucial to consult a healthcare professional before starting any new diet, particularly one that restricts essential nutrients like protein. A healthcare provider can help determine if a protein-restricted diet is appropriate and ensure it is implemented safely and effectively.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Reproducibility of results in a medical context refers to the ability to obtain consistent and comparable findings when a particular experiment or study is repeated, either by the same researcher or by different researchers, following the same experimental protocol. It is an essential principle in scientific research that helps to ensure the validity and reliability of research findings.

In medical research, reproducibility of results is crucial for establishing the effectiveness and safety of new treatments, interventions, or diagnostic tools. It involves conducting well-designed studies with adequate sample sizes, appropriate statistical analyses, and transparent reporting of methods and findings to allow other researchers to replicate the study and confirm or refute the results.

The lack of reproducibility in medical research has become a significant concern in recent years, as several high-profile studies have failed to produce consistent findings when replicated by other researchers. This has led to increased scrutiny of research practices and a call for greater transparency, rigor, and standardization in the conduct and reporting of medical research.

VLDL (Very Low-Density Lipoproteins) are a type of lipoprotein that play a crucial role in the transport and metabolism of fat molecules, known as triglycerides, in the body. They are produced by the liver and consist of a core of triglycerides surrounded by a shell of proteins called apolipoproteins, phospholipids, and cholesterol.

VLDL particles are responsible for delivering fat molecules from the liver to peripheral tissues throughout the body, where they can be used as an energy source or stored for later use. During this process, VLDL particles lose triglycerides and acquire more cholesterol, transforming into intermediate-density lipoproteins (IDL) and eventually low-density lipoproteins (LDL), which are also known as "bad" cholesterol.

Elevated levels of VLDL in the blood can contribute to the development of cardiovascular disease due to their association with increased levels of triglycerides and LDL cholesterol, as well as decreased levels of high-density lipoproteins (HDL), which are considered "good" cholesterol.

Apolipoprotein E (ApoE) is a protein involved in the metabolism of lipids, particularly cholesterol. It is produced primarily by the liver and is a component of several types of lipoproteins, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL).

ApoE plays a crucial role in the transport and uptake of lipids in the body. It binds to specific receptors on cell surfaces, facilitating the delivery of lipids to cells for energy metabolism or storage. ApoE also helps to clear cholesterol from the bloodstream and is involved in the repair and maintenance of tissues.

There are three major isoforms of ApoE, designated ApoE2, ApoE3, and ApoE4, which differ from each other by only a few amino acids. These genetic variations can have significant effects on an individual's risk for developing certain diseases, particularly cardiovascular disease and Alzheimer's disease. For example, individuals who inherit the ApoE4 allele have an increased risk of developing Alzheimer's disease, while those with the ApoE2 allele may have a reduced risk.

In summary, Apolipoprotein E is a protein involved in lipid metabolism and transport, and genetic variations in this protein can influence an individual's risk for certain diseases.

Carbon isotopes are variants of the chemical element carbon that have different numbers of neutrons in their atomic nuclei. The most common and stable isotope of carbon is carbon-12 (^{12}C), which contains six protons and six neutrons. However, carbon can also come in other forms, known as isotopes, which contain different numbers of neutrons.

Carbon-13 (^{13}C) is a stable isotope of carbon that contains seven neutrons in its nucleus. It makes up about 1.1% of all carbon found on Earth and is used in various scientific applications, such as in tracing the metabolic pathways of organisms or in studying the age of fossilized materials.

Carbon-14 (^{14}C), also known as radiocarbon, is a radioactive isotope of carbon that contains eight neutrons in its nucleus. It is produced naturally in the atmosphere through the interaction of cosmic rays with nitrogen gas. Carbon-14 has a half-life of about 5,730 years, which makes it useful for dating organic materials, such as archaeological artifacts or fossils, up to around 60,000 years old.

Carbon isotopes are important in many scientific fields, including geology, biology, and medicine, and are used in a variety of applications, from studying the Earth's climate history to diagnosing medical conditions.

Apolipoprotein B (ApoB) is a type of protein that plays a crucial role in the metabolism of lipids, particularly low-density lipoprotein (LDL) or "bad" cholesterol. ApoB is a component of LDL particles and serves as a ligand for the LDL receptor, which is responsible for the clearance of LDL from the bloodstream.

There are two main forms of ApoB: ApoB-100 and ApoB-48. ApoB-100 is found in LDL particles, very low-density lipoprotein (VLDL) particles, and chylomicrons, while ApoB-48 is only found in chylomicrons, which are produced in the intestines and responsible for transporting dietary lipids.

Elevated levels of ApoB are associated with an increased risk of cardiovascular disease (CVD), as they indicate a higher concentration of LDL particles in the bloodstream. Therefore, measuring ApoB levels can provide additional information about CVD risk beyond traditional lipid profile tests that only measure total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.

Biotransformation is the metabolic modification of a chemical compound, typically a xenobiotic (a foreign chemical substance found within an living organism), by a biological system. This process often involves enzymatic conversion of the parent compound to one or more metabolites, which may be more or less active, toxic, or mutagenic than the original substance.

In the context of pharmacology and toxicology, biotransformation is an important aspect of drug metabolism and elimination from the body. The liver is the primary site of biotransformation, but other organs such as the kidneys, lungs, and gastrointestinal tract can also play a role.

Biotransformation can occur in two phases: phase I reactions involve functionalization of the parent compound through oxidation, reduction, or hydrolysis, while phase II reactions involve conjugation of the metabolite with endogenous molecules such as glucuronic acid, sulfate, or acetate to increase its water solubility and facilitate excretion.

Carbohydrate metabolism is the process by which the body breaks down carbohydrates into glucose, which is then used for energy or stored in the liver and muscles as glycogen. This process involves several enzymes and chemical reactions that convert carbohydrates from food into glucose, fructose, or galactose, which are then absorbed into the bloodstream and transported to cells throughout the body.

The hormones insulin and glucagon regulate carbohydrate metabolism by controlling the uptake and storage of glucose in cells. Insulin is released from the pancreas when blood sugar levels are high, such as after a meal, and promotes the uptake and storage of glucose in cells. Glucagon, on the other hand, is released when blood sugar levels are low and signals the liver to convert stored glycogen back into glucose and release it into the bloodstream.

Disorders of carbohydrate metabolism can result from genetic defects or acquired conditions that affect the enzymes or hormones involved in this process. Examples include diabetes, hypoglycemia, and galactosemia. Proper management of these disorders typically involves dietary modifications, medication, and regular monitoring of blood sugar levels.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Inborn errors of renal tubular transport refer to genetic disorders that affect the normal functioning of the kidney tubules. The kidney tubules are responsible for the reabsorption and secretion of various substances, including electrolytes and nutrients, as urine is formed. Inherited defects in the proteins that mediate these transport processes can lead to abnormal levels of these substances in the body and may result in a variety of clinical symptoms.

These disorders can affect different parts of the renal tubule, including the proximal tubule, loop of Henle, distal tubule, and collecting duct. Depending on the specific transporter affected, inborn errors of renal tubular transport can present with a range of clinical manifestations, such as electrolyte imbalances, acid-base disorders, growth retardation, kidney stones, nephrocalcinosis, or even kidney failure.

Examples of inborn errors of renal tubular transport include:

1. Distal renal tubular acidosis (dRTA): A genetic disorder that affects the ability of the distal tubule to acidify urine, leading to metabolic acidosis, hypokalemia, and nephrocalcinosis.
2. Bartter syndrome: A group of autosomal recessive disorders characterized by impaired sodium reabsorption in the loop of Henle, resulting in hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
3. Gitelman syndrome: An autosomal recessive disorder caused by a defect in the thiazide-sensitive sodium chloride cotransporter in the distal tubule, leading to hypokalemia, metabolic alkalosis, and hypocalciuria.
4. Liddle syndrome: An autosomal dominant disorder characterized by increased sodium reabsorption in the collecting duct due to a gain-of-function mutation in the epithelial sodium channel (ENaC), resulting in hypertension, hypokalemia, and metabolic alkalosis.
5. Dent disease: An X-linked recessive disorder caused by mutations in the CLCN5 gene, which encodes a chloride channel in the proximal tubule, leading to low molecular weight proteinuria, hypercalciuria, and nephrolithiasis.
6. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): An autosomal recessive disorder caused by mutations in the CLCN5 or CLDN16 genes, which encode chloride channels in the thick ascending limb of Henle's loop, resulting in hypomagnesemia, hypercalciuria, and nephrocalcinosis.

A cell membrane, also known as the plasma membrane, is a thin semi-permeable phospholipid bilayer that surrounds all cells in animals, plants, and microorganisms. It functions as a barrier to control the movement of substances in and out of the cell, allowing necessary molecules such as nutrients, oxygen, and signaling molecules to enter while keeping out harmful substances and waste products. The cell membrane is composed mainly of phospholipids, which have hydrophilic (water-loving) heads and hydrophobic (water-fearing) tails. This unique structure allows the membrane to be flexible and fluid, yet selectively permeable. Additionally, various proteins are embedded in the membrane that serve as channels, pumps, receptors, and enzymes, contributing to the cell's overall functionality and communication with its environment.

Ornithine is not a medical condition but a naturally occurring alpha-amino acid, which is involved in the urea cycle, a process that eliminates ammonia from the body. Here's a brief medical/biochemical definition of Ornithine:

Ornithine (NH₂-CH₂-CH₂-CH(NH₃)-COOH) is an α-amino acid without a carbon atom attached to the amino group, classified as a non-proteinogenic amino acid because it is not encoded by the standard genetic code and not commonly found in proteins. It plays a crucial role in the urea cycle, where it helps convert harmful ammonia into urea, which can then be excreted by the body through urine. Ornithine is produced from the breakdown of arginine, another amino acid, via the enzyme arginase. In some medical and nutritional contexts, ornithine supplementation may be recommended to support liver function, wound healing, or muscle growth, but its effectiveness for these uses remains a subject of ongoing research and debate.

Argininosuccinate Lyase is an enzyme that plays a crucial role in the urea cycle, which is the metabolic pathway responsible for eliminating excess nitrogen waste from the body. This enzyme is responsible for catalyzing the conversion of argininosuccinate into arginine and fumarate.

The urea cycle occurs primarily in the liver and helps to convert toxic ammonia, a byproduct of protein metabolism, into urea, which can be safely excreted in urine. Argininosuccinate lyase is essential for this process, as it helps to convert argininosuccinate, an intermediate compound in the cycle, into arginine, which can then be recycled back into the urea cycle or used for other physiological processes.

Deficiencies in argininosuccinate lyase can lead to a rare genetic disorder known as citrullinemia, which is characterized by elevated levels of citrulline and ammonia in the blood, as well as neurological symptoms such as seizures, developmental delays, and intellectual disability. Treatment for citrullinemia typically involves a low-protein diet, supplementation with arginine and other essential amino acids, and in some cases, liver transplantation.

PPAR gamma, or Peroxisome Proliferator-Activated Receptor gamma, is a nuclear receptor protein that functions as a transcription factor. It plays a crucial role in the regulation of genes involved in adipogenesis (the process of forming mature fat cells), lipid metabolism, insulin sensitivity, and glucose homeostasis. PPAR gamma is primarily expressed in adipose tissue but can also be found in other tissues such as the immune system, large intestine, and brain.

PPAR gamma forms a heterodimer with another nuclear receptor protein, RXR (Retinoid X Receptor), and binds to specific DNA sequences called PPREs (Peroxisome Proliferator Response Elements) in the promoter regions of target genes. Upon binding, PPAR gamma modulates the transcription of these genes, either activating or repressing their expression.

Agonists of PPAR gamma, such as thiazolidinediones (TZDs), are used clinically to treat type 2 diabetes due to their insulin-sensitizing effects. These drugs work by binding to and activating PPAR gamma, which in turn leads to the upregulation of genes involved in glucose uptake and metabolism in adipose tissue and skeletal muscle.

In summary, PPAR gamma is a nuclear receptor protein that regulates gene expression related to adipogenesis, lipid metabolism, insulin sensitivity, and glucose homeostasis. Its activation has therapeutic implications for the treatment of type 2 diabetes and other metabolic disorders.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Urea is not a medical condition but it is a medically relevant substance. Here's the definition:

Urea is a colorless, odorless solid that is the primary nitrogen-containing compound in the urine of mammals. It is a normal metabolic end product that is excreted by the kidneys and is also used as a fertilizer and in various industrial applications. Chemically, urea is a carbamide, consisting of two amino groups (NH2) joined by a carbon atom and having a hydrogen atom and a hydroxyl group (OH) attached to the carbon atom. Urea is produced in the liver as an end product of protein metabolism and is then eliminated from the body by the kidneys through urination. Abnormal levels of urea in the blood, known as uremia, can indicate impaired kidney function or other medical conditions.

Oleic acid is a monounsaturated fatty acid that is commonly found in various natural oils such as olive oil, sunflower oil, and grapeseed oil. Its chemical formula is cis-9-octadecenoic acid, and it is a colorless liquid at room temperature. Oleic acid is an important component of human diet and has been shown to have potential health benefits, including reducing the risk of heart disease and improving immune function. It is also used in the manufacture of soaps, cosmetics, and other personal care products.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

Sterols are a type of organic compound that is derived from steroids and found in the cell membranes of organisms. In animals, including humans, cholesterol is the most well-known sterol. Sterols help to maintain the structural integrity and fluidity of cell membranes, and they also play important roles as precursors for the synthesis of various hormones and other signaling molecules. Phytosterols are plant sterols that have been shown to have cholesterol-lowering effects in humans when consumed in sufficient amounts.

Oxygen consumption, also known as oxygen uptake, is the amount of oxygen that is consumed or utilized by the body during a specific period of time, usually measured in liters per minute (L/min). It is a common measurement used in exercise physiology and critical care medicine to assess an individual's aerobic metabolism and overall health status.

In clinical settings, oxygen consumption is often measured during cardiopulmonary exercise testing (CPET) to evaluate cardiovascular function, pulmonary function, and exercise capacity in patients with various medical conditions such as heart failure, chronic obstructive pulmonary disease (COPD), and other respiratory or cardiac disorders.

During exercise, oxygen is consumed by the muscles to generate energy through a process called oxidative phosphorylation. The amount of oxygen consumed during exercise can provide important information about an individual's fitness level, exercise capacity, and overall health status. Additionally, measuring oxygen consumption can help healthcare providers assess the effectiveness of treatments and rehabilitation programs in patients with various medical conditions.

Low-density lipoproteins (LDL), also known as "bad cholesterol," are a type of lipoprotein that carry cholesterol and other fats from the liver to cells throughout the body. High levels of LDL in the blood can lead to the buildup of cholesterol in the walls of the arteries, which can increase the risk of heart disease and stroke.

Lipoproteins are complex particles composed of proteins (apolipoproteins) and lipids (cholesterol, triglycerides, and phospholipids) that are responsible for transporting fat molecules around the body in the bloodstream. LDL is one type of lipoprotein, along with high-density lipoproteins (HDL), very low-density lipoproteins (VLDL), and chylomicrons.

LDL particles are smaller than HDL particles and can easily penetrate the artery walls, leading to the formation of plaques that can narrow or block the arteries. Therefore, maintaining healthy levels of LDL in the blood is essential for preventing cardiovascular disease.

Organ size refers to the volume or physical measurement of an organ in the body of an individual. It can be described in terms of length, width, and height or by using specialized techniques such as imaging studies (like CT scans or MRIs) to determine the volume. The size of an organ can vary depending on factors such as age, sex, body size, and overall health status. Changes in organ size may indicate various medical conditions, including growths, inflammation, or atrophy.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

Uroporphyrinogen III Synthase is a crucial enzyme in the biosynthetic pathway of heme and chlorophyll. This enzyme, specifically classified under EC 4.2.1.75, catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX, which is a key step in the synthesis of heme.

The reaction it facilitates is:

Coproporphyrinogen III + reduced ferredoxin → Protoporphyrinogen IX + oxidized ferredoxin + CO2

Deficiency or malfunctioning of this enzyme can lead to a rare genetic disorder known as "congenital erythropoietic porphyria" (CEP), also known as Günther's disease, which is characterized by severe photosensitivity and related symptoms.

Oxidative stress is defined as an imbalance between the production of reactive oxygen species (free radicals) and the body's ability to detoxify them or repair the damage they cause. This imbalance can lead to cellular damage, oxidation of proteins, lipids, and DNA, disruption of cellular functions, and activation of inflammatory responses. Prolonged or excessive oxidative stress has been linked to various health conditions, including cancer, cardiovascular diseases, neurodegenerative disorders, and aging-related diseases.

Ammonia is a colorless, pungent-smelling gas with the chemical formula NH3. It is a compound of nitrogen and hydrogen and is a basic compound, meaning it has a pH greater than 7. Ammonia is naturally found in the environment and is produced by the breakdown of organic matter, such as animal waste and decomposing plants. In the medical field, ammonia is most commonly discussed in relation to its role in human metabolism and its potential toxicity.

In the body, ammonia is produced as a byproduct of protein metabolism and is typically converted to urea in the liver and excreted in the urine. However, if the liver is not functioning properly or if there is an excess of protein in the diet, ammonia can accumulate in the blood and cause a condition called hyperammonemia. Hyperammonemia can lead to serious neurological symptoms, such as confusion, seizures, and coma, and is treated by lowering the level of ammonia in the blood through medications, dietary changes, and dialysis.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Apolipoproteins are a group of proteins that are associated with lipids (fats) in the body and play a crucial role in the metabolism, transportation, and regulation of lipids. They are structural components of lipoprotein particles, which are complexes of lipids and proteins that transport lipids in the bloodstream.

There are several types of apolipoproteins, including ApoA, ApoB, ApoC, ApoD, ApoE, and others. Each type has a specific function in lipid metabolism. For example, ApoA is a major component of high-density lipoprotein (HDL), often referred to as "good cholesterol," and helps remove excess cholesterol from cells and tissues and transport it to the liver for excretion. ApoB, on the other hand, is a major component of low-density lipoprotein (LDL), or "bad cholesterol," and plays a role in the delivery of cholesterol to cells and tissues.

Abnormal levels of apolipoproteins or dysfunctional forms of these proteins have been linked to various diseases, including cardiovascular disease, Alzheimer's disease, and metabolic disorders such as diabetes. Therefore, measuring apolipoprotein levels in the blood can provide valuable information for diagnosing and monitoring these conditions.

"Inbred strains of rats" are genetically identical rodents that have been produced through many generations of brother-sister mating. This results in a high degree of homozygosity, where the genes at any particular locus in the genome are identical in all members of the strain.

Inbred strains of rats are widely used in biomedical research because they provide a consistent and reproducible genetic background for studying various biological phenomena, including the effects of drugs, environmental factors, and genetic mutations on health and disease. Additionally, inbred strains can be used to create genetically modified models of human diseases by introducing specific mutations into their genomes.

Some commonly used inbred strains of rats include the Wistar Kyoto (WKY), Sprague-Dawley (SD), and Fischer 344 (F344) rat strains. Each strain has its own unique genetic characteristics, making them suitable for different types of research.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Carnitine O-palmitoyltransferase (CPT) is an enzyme that plays a crucial role in the transport of long-chain fatty acids into the mitochondrial matrix, where they undergo beta-oxidation to produce energy. There are two main forms of this enzyme: CPT1 and CPT2.

CPT1 is located on the outer mitochondrial membrane and catalyzes the transfer of a long-chain fatty acyl group from coenzyme A (CoA) to carnitine, forming acylcarnitine. This reaction is reversible and allows for the regulation of fatty acid oxidation in response to changes in energy demand.

CPT2 is located on the inner mitochondrial membrane and catalyzes the reverse reaction, transferring the long-chain fatty acyl group from carnitine back to CoA, allowing for the entry of the fatty acid into the beta-oxidation pathway.

Deficiencies in CPT1 or CPT2 can lead to serious metabolic disorders, such as carnitine deficiency and mitochondrial myopathies, which can cause muscle weakness, cardiomyopathy, and other symptoms. Treatment may involve dietary modifications, supplementation with carnitine or medium-chain fatty acids, and in some cases, enzyme replacement therapy.

Sphingolipids are a class of lipids that contain a sphingosine base, which is a long-chain amino alcohol with an unsaturated bond and an amino group. They are important components of animal cell membranes, particularly in the nervous system. Sphingolipids include ceramides, sphingomyelins, and glycosphingolipids.

Ceramides consist of a sphingosine base linked to a fatty acid through an amide bond. They play important roles in cell signaling, membrane structure, and apoptosis (programmed cell death).

Sphingomyelins are formed when ceramides combine with phosphorylcholine, resulting in the formation of a polar head group. Sphingomyelins are major components of the myelin sheath that surrounds nerve cells and are involved in signal transduction and membrane structure.

Glycosphingolipids contain one or more sugar residues attached to the ceramide backbone, forming complex structures that play important roles in cell recognition, adhesion, and signaling. Abnormalities in sphingolipid metabolism have been linked to various diseases, including neurological disorders, cancer, and cardiovascular disease.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

Phlebotomy is a medical term that refers to the process of making an incision in a vein, usually in the arm, in order to draw blood. It is also commonly known as venipuncture. This procedure is performed by healthcare professionals for various purposes such as diagnostic testing, blood donation, or therapeutic treatments like phlebotomy for patients with hemochromatosis (a condition where the body absorbs too much iron from food).

The person who performs this procedure is called a phlebotomist. They must be trained in the proper techniques to ensure that the process is safe and relatively pain-free for the patient, and that the blood sample is suitable for laboratory testing.

Mitochondria are specialized structures located inside cells that convert the energy from food into ATP (adenosine triphosphate), which is the primary form of energy used by cells. They are often referred to as the "powerhouses" of the cell because they generate most of the cell's supply of chemical energy. Mitochondria are also involved in various other cellular processes, such as signaling, differentiation, and apoptosis (programmed cell death).

Mitochondria have their own DNA, known as mitochondrial DNA (mtDNA), which is inherited maternally. This means that mtDNA is passed down from the mother to her offspring through the egg cells. Mitochondrial dysfunction has been linked to a variety of diseases and conditions, including neurodegenerative disorders, diabetes, and aging.

A dose-response relationship in the context of drugs refers to the changes in the effects or symptoms that occur as the dose of a drug is increased or decreased. Generally, as the dose of a drug is increased, the severity or intensity of its effects also increases. Conversely, as the dose is decreased, the effects of the drug become less severe or may disappear altogether.

The dose-response relationship is an important concept in pharmacology and toxicology because it helps to establish the safe and effective dosage range for a drug. By understanding how changes in the dose of a drug affect its therapeutic and adverse effects, healthcare providers can optimize treatment plans for their patients while minimizing the risk of harm.

The dose-response relationship is typically depicted as a curve that shows the relationship between the dose of a drug and its effect. The shape of the curve may vary depending on the drug and the specific effect being measured. Some drugs may have a steep dose-response curve, meaning that small changes in the dose can result in large differences in the effect. Other drugs may have a more gradual dose-response curve, where larger changes in the dose are needed to produce significant effects.

In addition to helping establish safe and effective dosages, the dose-response relationship is also used to evaluate the potential therapeutic benefits and risks of new drugs during clinical trials. By systematically testing different doses of a drug in controlled studies, researchers can identify the optimal dosage range for the drug and assess its safety and efficacy.

Acyl-CoA oxidase is an enzyme that plays a crucial role in the breakdown of fatty acids within the body. It is located in the peroxisomes, which are small organelles found in the cells of living organisms. The primary function of acyl-CoA oxidase is to catalyze the initial step in the beta-oxidation of fatty acids, a process that involves the sequential removal of two-carbon units from fatty acid molecules in the form of acetyl-CoA.

The reaction catalyzed by acyl-CoA oxidase is as follows:

acyl-CoA + FAD → trans-2,3-dehydroacyl-CoA + FADH2 + H+

In this reaction, the enzyme removes a hydrogen atom from the fatty acyl-CoA molecule and transfers it to its cofactor, flavin adenine dinucleotide (FAD). This results in the formation of trans-2,3-dehydroacyl-CoA, FADH2, and a proton. The FADH2 produced during this reaction can then be used to generate ATP through the electron transport chain, while the trans-2,3-dehydroacyl-CoA undergoes further reactions in the beta-oxidation pathway.

There are two main isoforms of acyl-CoA oxidase found in humans: ACOX1 and ACOX2. ACOX1 is primarily responsible for oxidizing straight-chain fatty acids, while ACOX2 specializes in the breakdown of branched-chain fatty acids. Mutations in the genes encoding these enzymes can lead to various metabolic disorders, such as peroxisomal biogenesis disorders and Refsum disease.

Critical pathways, also known as clinical pathways or care maps, are specialized treatment plans for specific medical conditions. They are designed to standardize and improve the quality of care by providing evidence-based guidelines for each stage of a patient's treatment, from diagnosis to discharge. Critical pathways aim to reduce variations in care, promote efficient use of resources, and enhance communication among healthcare providers. These pathways may include recommendations for medications, tests, procedures, and follow-up care based on best practices and current research evidence. By following critical pathways, healthcare professionals can ensure that patients receive timely, effective, and coordinated care, which can lead to better outcomes and improved patient satisfaction.

Acyl Coenzyme A (often abbreviated as Acetyl-CoA or Acyl-CoA) is a crucial molecule in metabolism, particularly in the breakdown and oxidation of fats and carbohydrates to produce energy. It is a thioester compound that consists of a fatty acid or an acetate group linked to coenzyme A through a sulfur atom.

Acyl CoA plays a central role in several metabolic pathways, including:

1. The citric acid cycle (Krebs cycle): In the mitochondria, Acyl-CoA is formed from the oxidation of fatty acids or the breakdown of certain amino acids. This Acyl-CoA then enters the citric acid cycle to produce high-energy electrons, which are used in the electron transport chain to generate ATP (adenosine triphosphate), the main energy currency of the cell.
2. Beta-oxidation: The breakdown of fatty acids occurs in the mitochondria through a process called beta-oxidation, where Acyl-CoA is sequentially broken down into smaller units, releasing acetyl-CoA, which then enters the citric acid cycle.
3. Ketogenesis: In times of low carbohydrate availability or during prolonged fasting, the liver can produce ketone bodies from acetyl-CoA to supply energy to other organs, such as the brain and heart.
4. Protein synthesis: Acyl-CoA is also involved in the modification of proteins by attaching fatty acid chains to them (a process called acetylation), which can influence protein function and stability.

In summary, Acyl Coenzyme A is a vital molecule in metabolism that connects various pathways related to energy production, fatty acid breakdown, and protein modification.

A sterol esterase is an enzyme that catalyzes the hydrolysis of sterol esters, which are fatty acid esters of sterols (such as cholesterol) that are commonly found in lipoproteins and cell membranes. Sterol esterases play a crucial role in the metabolism of lipids by breaking down sterol esters into free sterols and free fatty acids, which can then be used in various biochemical processes.

There are several types of sterol esterases that have been identified, including:

1. Cholesteryl esterase (CE): This enzyme is responsible for hydrolyzing cholesteryl esters in the intestine and liver. It plays a critical role in the absorption and metabolism of dietary cholesterol.
2. Hormone-sensitive lipase (HSL): This enzyme is involved in the hydrolysis of sterol esters in adipose tissue, as well as other lipids such as triacylglycerols. It is regulated by hormones such as insulin and catecholamines.
3. Carboxylesterase (CES): This enzyme is a broad-specificity esterase that can hydrolyze various types of esters, including sterol esters. It is found in many tissues throughout the body.

Sterol esterases are important targets for drug development, as inhibiting these enzymes can have therapeutic effects in a variety of diseases, such as obesity, diabetes, and cardiovascular disease.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Diacylglycerols (also known as diglycerides) are a type of glyceride, which is a compound that consists of glycerol and one or more fatty acids. Diacylglycerols contain two fatty acid chains bonded to a glycerol molecule through ester linkages. They are important intermediates in the metabolism of lipids and can be found in many types of food, including vegetable oils and dairy products. In the body, diacylglycerols can serve as a source of energy and can also play roles in cell signaling processes.

Blood specimen collection is the process of obtaining a sample of blood from a patient for laboratory testing and analysis. This procedure is performed by trained healthcare professionals, such as nurses or phlebotomists, using sterile equipment to minimize the risk of infection and ensure accurate test results. The collected blood sample may be used to diagnose and monitor various medical conditions, assess overall health and organ function, and check for the presence of drugs, alcohol, or other substances. Proper handling, storage, and transportation of the specimen are crucial to maintain its integrity and prevent contamination.

Amino acids are organic compounds that serve as the building blocks of proteins. They consist of a central carbon atom, also known as the alpha carbon, which is bonded to an amino group (-NH2), a carboxyl group (-COOH), a hydrogen atom (H), and a variable side chain (R group). The R group can be composed of various combinations of atoms such as hydrogen, oxygen, sulfur, nitrogen, and carbon, which determine the unique properties of each amino acid.

There are 20 standard amino acids that are encoded by the genetic code and incorporated into proteins during translation. These include:

1. Alanine (Ala)
2. Arginine (Arg)
3. Asparagine (Asn)
4. Aspartic acid (Asp)
5. Cysteine (Cys)
6. Glutamine (Gln)
7. Glutamic acid (Glu)
8. Glycine (Gly)
9. Histidine (His)
10. Isoleucine (Ile)
11. Leucine (Leu)
12. Lysine (Lys)
13. Methionine (Met)
14. Phenylalanine (Phe)
15. Proline (Pro)
16. Serine (Ser)
17. Threonine (Thr)
18. Tryptophan (Trp)
19. Tyrosine (Tyr)
20. Valine (Val)

Additionally, there are several non-standard or modified amino acids that can be incorporated into proteins through post-translational modifications, such as hydroxylation, methylation, and phosphorylation. These modifications expand the functional diversity of proteins and play crucial roles in various cellular processes.

Amino acids are essential for numerous biological functions, including protein synthesis, enzyme catalysis, neurotransmitter production, energy metabolism, and immune response regulation. Some amino acids can be synthesized by the human body (non-essential), while others must be obtained through dietary sources (essential).

Apolipoprotein A-I (ApoA-I) is a major protein component of high-density lipoproteins (HDL) in human plasma. It plays a crucial role in the metabolism and transport of lipids, particularly cholesterol, within the body. ApoA-I facilitates the formation of HDL particles, which are involved in the reverse transport of cholesterol from peripheral tissues to the liver for excretion. This process is known as reverse cholesterol transport and helps maintain appropriate cholesterol levels in the body. Low levels of ApoA-I or dysfunctional ApoA-I have been associated with an increased risk of developing cardiovascular diseases.

Lipid mobilization, also known as lipolysis, is the process by which fat cells (adipocytes) break down stored triglycerides into free fatty acids and glycerol, which can then be released into the bloodstream and used for energy by the body's cells. This process is regulated by hormones such as adrenaline, noradrenaline, glucagon, and cortisol, which activate enzymes in the fat cell that catalyze the breakdown of triglycerides. Lipid mobilization is an important physiological response to fasting, exercise, and stress, and plays a key role in maintaining energy homeostasis in the body.

Fatty acid synthases (FAS) are a group of enzymes that are responsible for the synthesis of fatty acids in the body. They catalyze a series of reactions that convert acetyl-CoA and malonyl-CoA into longer chain fatty acids, which are then used for various purposes such as energy storage or membrane formation.

The human genome encodes two types of FAS: type I and type II. Type I FAS is a large multifunctional enzyme complex found in the cytoplasm of cells, while type II FAS consists of individual enzymes located in the mitochondria. Both types of FAS play important roles in lipid metabolism, but their regulation and expression differ depending on the tissue and physiological conditions.

Inhibition of FAS has been explored as a potential therapeutic strategy for various diseases, including cancer, obesity, and metabolic disorders. However, more research is needed to fully understand the complex mechanisms regulating FAS activity and its role in human health and disease.

The metabolome is the complete set of small molecule metabolites, such as carbohydrates, lipids, nucleic acids, and amino acids, present in a biological sample at a given moment. It reflects the physiological state of a cell, tissue, or organism and provides information about the biochemical processes that are taking place. The metabolome is dynamic and constantly changing due to various factors such as genetics, environment, diet, and disease. Studying the metabolome can help researchers understand the underlying mechanisms of health and disease and develop diagnostic tools and treatments for various medical conditions.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Liposomes are artificially prepared, small, spherical vesicles composed of one or more lipid bilayers that enclose an aqueous compartment. They can encapsulate both hydrophilic and hydrophobic drugs, making them useful for drug delivery applications in the medical field. The lipid bilayer structure of liposomes is similar to that of biological membranes, which allows them to merge with and deliver their contents into cells. This property makes liposomes a valuable tool in delivering drugs directly to targeted sites within the body, improving drug efficacy while minimizing side effects.

Phenylalanine Hydroxylase (PAH) is an enzyme that plays a crucial role in the metabolism of the essential amino acid phenylalanine. This enzyme is primarily found in the liver and is responsible for converting phenylalanine into tyrosine, another amino acid. PAH requires a cofactor called tetrahydrobiopterin (BH4) to function properly.

Defects or mutations in the gene that encodes PAH can lead to a genetic disorder known as Phenylketonuria (PKU). In PKU, the activity of PAH is significantly reduced or absent, causing an accumulation of phenylalanine in the body. If left untreated, this condition can result in severe neurological damage and intellectual disability due to the toxic effects of high phenylalanine levels on the developing brain. A strict low-phenylalanine diet and regular monitoring of blood phenylalanine levels are essential for managing PKU and preventing associated complications.

Glycerides are esters formed from glycerol and one, two, or three fatty acids. They include monoglycerides (one fatty acid), diglycerides (two fatty acids), and triglycerides (three fatty acids). Triglycerides are the main constituents of natural fats and oils, and they are a major form of energy storage in animals and plants. High levels of triglycerides in the blood, also known as hypertriglyceridemia, can increase the risk of heart disease and stroke.

Diabetes Mellitus, Type 2 is a metabolic disorder characterized by high blood glucose (or sugar) levels resulting from the body's inability to produce sufficient amounts of insulin or effectively use the insulin it produces. This form of diabetes usually develops gradually over several years and is often associated with older age, obesity, physical inactivity, family history of diabetes, and certain ethnicities.

In Type 2 diabetes, the body's cells become resistant to insulin, meaning they don't respond properly to the hormone. As a result, the pancreas produces more insulin to help glucose enter the cells. Over time, the pancreas can't keep up with the increased demand, leading to high blood glucose levels and diabetes.

Type 2 diabetes is managed through lifestyle modifications such as weight loss, regular exercise, and a healthy diet. Medications, including insulin therapy, may also be necessary to control blood glucose levels and prevent long-term complications associated with the disease, such as heart disease, nerve damage, kidney damage, and vision loss.

Liver diseases refer to a wide range of conditions that affect the normal functioning of the liver. The liver is a vital organ responsible for various critical functions such as detoxification, protein synthesis, and production of biochemicals necessary for digestion.

Liver diseases can be categorized into acute and chronic forms. Acute liver disease comes on rapidly and can be caused by factors like viral infections (hepatitis A, B, C, D, E), drug-induced liver injury, or exposure to toxic substances. Chronic liver disease develops slowly over time, often due to long-term exposure to harmful agents or inherent disorders of the liver.

Common examples of liver diseases include hepatitis, cirrhosis (scarring of the liver tissue), fatty liver disease, alcoholic liver disease, autoimmune liver diseases, genetic/hereditary liver disorders (like Wilson's disease and hemochromatosis), and liver cancers. Symptoms may vary widely depending on the type and stage of the disease but could include jaundice, abdominal pain, fatigue, loss of appetite, nausea, and weight loss.

Early diagnosis and treatment are essential to prevent progression and potential complications associated with liver diseases.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

3T3-L1 cells are a widely used cell line in biomedical research, particularly in the study of adipocytes (fat cells) and adipose tissue. These cells are derived from mouse embryo fibroblasts and have the ability to differentiate into adipocytes under specific culture conditions.

When 3T3-L1 cells are exposed to a cocktail of hormones and growth factors, they undergo a process called adipogenesis, during which they differentiate into mature adipocytes. These differentiated cells exhibit many characteristics of fat cells, including the accumulation of lipid droplets, expression of adipocyte-specific genes and proteins, and the ability to respond to hormones such as insulin.

Researchers use 3T3-L1 cells to study various aspects of adipocyte biology, including the regulation of fat metabolism, the development of obesity and related metabolic disorders, and the effects of drugs or other compounds on adipose tissue function. However, it is important to note that because these cells are derived from mice, they may not always behave exactly the same way as human adipocytes, so results obtained using 3T3-L1 cells must be validated in human cell lines or animal models before they can be applied to human health.

Lactic acid, also known as 2-hydroxypropanoic acid, is a chemical compound that plays a significant role in various biological processes. In the context of medicine and biochemistry, lactic acid is primarily discussed in relation to muscle metabolism and cellular energy production. Here's a medical definition for lactic acid:

Lactic acid (LA): A carboxylic acid with the molecular formula C3H6O3 that plays a crucial role in anaerobic respiration, particularly during strenuous exercise or conditions of reduced oxygen availability. It is formed through the conversion of pyruvate, catalyzed by the enzyme lactate dehydrogenase (LDH), when there is insufficient oxygen to complete the final step of cellular respiration in the Krebs cycle. The accumulation of lactic acid can lead to acidosis and muscle fatigue. Additionally, lactic acid serves as a vital intermediary in various metabolic pathways and is involved in the production of glucose through gluconeogenesis in the liver.

Fatty acid-binding proteins (FABPs) are a group of small intracellular proteins that play a crucial role in the transport and metabolism of fatty acids within cells. They are responsible for binding long-chain fatty acids, which are hydrophobic molecules, and facilitating their movement across the cell while protecting the cells from lipotoxicity.

FABPs are expressed in various tissues, including the heart, liver, muscle, and brain, with different isoforms found in specific organs. These proteins have a high affinity for long-chain fatty acids and can regulate their intracellular concentration by controlling the uptake, storage, and metabolism of these molecules.

FABPs also play a role in modulating cell signaling pathways that are involved in various physiological processes such as inflammation, differentiation, and apoptosis. Dysregulation of FABP expression and function has been implicated in several diseases, including diabetes, obesity, cancer, and neurodegenerative disorders.

In summary, fatty acid-binding proteins are essential intracellular proteins that facilitate the transport and metabolism of long-chain fatty acids while regulating cell signaling pathways.

An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.

For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.

Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.

Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.

Acyl-CoA dehydrogenases are a group of enzymes that play a crucial role in the body's energy production process. They are responsible for catalyzing the oxidation of various fatty acids, which are broken down into smaller molecules called acyl-CoAs in the body.

More specifically, acyl-CoA dehydrogenases facilitate the removal of electrons from the acyl-CoA molecules, which are then transferred to coenzyme Q10 and eventually to the electron transport chain. This process generates energy in the form of ATP, which is used by cells throughout the body for various functions.

There are several different types of acyl-CoA dehydrogenases, each responsible for oxidizing a specific type of acyl-CoA molecule. These include:

* Very long-chain acyl-CoA dehydrogenase (VLCAD), which oxidizes acyl-CoAs with 12 to 20 carbon atoms
* Long-chain acyl-CoA dehydrogenase (LCAD), which oxidizes acyl-CoAs with 14 to 20 carbon atoms
* Medium-chain acyl-CoA dehydrogenase (MCAD), which oxidizes acyl-CoAs with 6 to 12 carbon atoms
* Short-chain acyl-CoA dehydrogenase (SCAD), which oxidizes acyl-CoAs with 4 to 8 carbon atoms
* Isovaleryl-CoA dehydrogenase, which oxidizes isovaleryl-CoA, a specific type of branched-chain acyl-CoA molecule

Deficiencies in these enzymes can lead to various metabolic disorders, such as medium-chain acyl-CoA dehydrogenase deficiency (MCADD) or long-chain acyl-CoA dehydrogenase deficiency (LCADD), which can cause symptoms such as hypoglycemia, muscle weakness, and developmental delays.

High-Density Lipoproteins (HDL) are a type of lipoprotein that play a crucial role in the transportation and metabolism of cholesterol in the body. They are often referred to as "good" cholesterol because they help remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. This process is known as reverse cholesterol transport.

HDLs are composed of a lipid core containing cholesteryl esters and triglycerides, surrounded by a shell of phospholipids, free cholesterol, and apolipoproteins, primarily apoA-I. The size and composition of HDL particles can vary, leading to the classification of different subclasses of HDL with varying functions and metabolic fates.

Elevated levels of HDL have been associated with a lower risk of developing cardiovascular diseases, while low HDL levels increase the risk. However, it is essential to consider that HDL function and quality may be more important than just the quantity in determining cardiovascular risk.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

A Glucose Tolerance Test (GTT) is a medical test used to diagnose prediabetes, type 2 diabetes, and gestational diabetes. It measures how well your body is able to process glucose, which is a type of sugar.

During the test, you will be asked to fast (not eat or drink anything except water) for at least eight hours before the test. Then, a healthcare professional will take a blood sample to measure your fasting blood sugar level. After that, you will be given a sugary drink containing a specific amount of glucose. Your blood sugar levels will be measured again after two hours and sometimes also after one hour.

The results of the test will indicate how well your body is able to process the glucose and whether you have normal, impaired, or diabetic glucose tolerance. If your blood sugar levels are higher than normal but not high enough to be diagnosed with diabetes, you may have prediabetes, which means that you are at increased risk of developing type 2 diabetes in the future.

It is important to note that a Glucose Tolerance Test should be performed under the supervision of a healthcare professional, as high blood sugar levels can be dangerous if not properly managed.

Phosphatidylinositols (PIs) are a type of phospholipid that are abundant in the cell membrane. They contain a glycerol backbone, two fatty acid chains, and a head group consisting of myo-inositol, a cyclic sugar molecule, linked to a phosphate group.

Phosphatidylinositols can be phosphorylated at one or more of the hydroxyl groups on the inositol ring, forming various phosphoinositides (PtdInsPs) with different functions. These signaling molecules play crucial roles in regulating cellular processes such as membrane trafficking, cytoskeletal organization, and signal transduction pathways that control cell growth, differentiation, and survival.

Phosphatidylinositol 4,5-bisphosphate (PIP2) is a prominent phosphoinositide involved in the regulation of ion channels, enzymes, and cytoskeletal proteins. Upon activation of certain receptors, PIP2 can be cleaved by the enzyme phospholipase C into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (InsP3), which act as second messengers to trigger downstream signaling events.

Leptin is a hormone primarily produced and released by adipocytes, which are the fat cells in our body. It plays a crucial role in regulating energy balance and appetite by sending signals to the brain when the body has had enough food. This helps control body weight by suppressing hunger and increasing energy expenditure. Leptin also influences various metabolic processes, including glucose homeostasis, neuroendocrine function, and immune response. Defects in leptin signaling can lead to obesity and other metabolic disorders.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

In the context of medical definitions, 'carbon' is not typically used as a standalone term. Carbon is an element with the symbol C and atomic number 6, which is naturally abundant in the human body and the environment. It is a crucial component of all living organisms, forming the basis of organic compounds, such as proteins, carbohydrates, lipids, and nucleic acids (DNA and RNA).

Carbon forms strong covalent bonds with various elements, allowing for the creation of complex molecules that are essential to life. In this sense, carbon is a fundamental building block of life on Earth. However, it does not have a specific medical definition as an isolated term.

Coenzyme A (CoA) ligases, also known as CoA synthetases, are a class of enzymes that activate acyl groups, such as fatty acids and amino acids, by forming a thioester bond with coenzyme A. This activation is an essential step in various metabolic pathways, including fatty acid oxidation, amino acid catabolism, and the synthesis of several important compounds like steroids and acetylcholine.

CoA ligases catalyze the following reaction:

acyl group + ATP + CoA ↔ acyl-CoA + AMP + PP~i~

In this reaction, an acyl group (R-) from a carboxylic acid is linked to the thiol (-SH) group of coenzyme A through a high-energy thioester bond. The energy required for this activation is provided by the hydrolysis of ATP to AMP and inorganic pyrophosphate (PP~i~).

CoA ligases are classified into three main types based on the nature of the acyl group they activate:

1. Acyl-CoA synthetases (or long-chain fatty acid CoA ligases) activate long-chain fatty acids, typically containing 12 or more carbon atoms.
2. Aminoacyl-CoA synthetases activate amino acids to form aminoacyl-CoAs, which are essential intermediates in the catabolism of certain amino acids.
3. Short-chain specific CoA ligases activate short-chain fatty acids (up to 6 carbon atoms) and other acyl groups like acetate or propionate.

These enzymes play a crucial role in maintaining cellular energy homeostasis, metabolism, and the synthesis of various essential biomolecules.

Technology Assessment, Biomedical is defined as the systematic evaluation of biomedical technologies and techniques for their scientific validity, efficacy, effectiveness, cost-benefit, and impact on patient care, health system, and society. It involves a multidisciplinary and systematic approach to examining the medical, social, ethical, and economic implications of the use of new and existing biomedical technologies. The goal is to provide unbiased, evidence-based information to healthcare providers, patients, policymakers, and other stakeholders to inform decision making about the adoption, implementation, and dissemination of these technologies in clinical practice and health policy.

Body composition refers to the relative proportions of different components that make up a person's body, including fat mass, lean muscle mass, bone mass, and total body water. It is an important measure of health and fitness, as changes in body composition can indicate shifts in overall health status. For example, an increase in fat mass and decrease in lean muscle mass can be indicative of poor nutrition, sedentary behavior, or certain medical conditions.

There are several methods for measuring body composition, including:

1. Bioelectrical impedance analysis (BIA): This method uses low-level electrical currents to estimate body fat percentage based on the conductivity of different tissues.
2. Dual-energy X-ray absorptiometry (DXA): This method uses low-dose X-rays to measure bone density and body composition, including lean muscle mass and fat distribution.
3. Hydrostatic weighing: This method involves submerging a person in water and measuring their weight underwater to estimate body density and fat mass.
4. Air displacement plethysmography (ADP): This method uses air displacement to measure body volume and density, which can be used to estimate body composition.

Understanding body composition can help individuals make informed decisions about their health and fitness goals, as well as provide valuable information for healthcare providers in the management of chronic diseases such as obesity, diabetes, and heart disease.

Medical definitions generally do not include plant oils as a specific term. However, in a biological or biochemical context, plant oils, also known as vegetable oils, are defined as lipid extracts derived from various parts of plants such as seeds, fruits, and leaves. They mainly consist of triglycerides, which are esters of glycerol and three fatty acids. The composition of fatty acids can vary between different plant sources, leading to a range of physical and chemical properties that make plant oils useful for various applications in the pharmaceutical, cosmetic, and food industries. Some common examples of plant oils include olive oil, coconut oil, sunflower oil, and jojoba oil.

Vitamin B12, also known as cobalamin, is a water-soluble vitamin that plays a crucial role in the synthesis of DNA, formation of red blood cells, and maintenance of the nervous system. It is involved in the metabolism of every cell in the body, particularly affecting DNA regulation and neurological function.

Vitamin B12 is unique among vitamins because it contains a metal ion, cobalt, from which its name is derived. This vitamin can be synthesized only by certain types of bacteria and is not produced by plants or animals. The major sources of vitamin B12 in the human diet include animal-derived foods such as meat, fish, poultry, eggs, and dairy products, as well as fortified plant-based milk alternatives and breakfast cereals.

Deficiency in vitamin B12 can lead to various health issues, including megaloblastic anemia, fatigue, neurological symptoms such as numbness and tingling in the extremities, memory loss, and depression. Since vitamin B12 is not readily available from plant-based sources, vegetarians and vegans are at a higher risk of deficiency and may require supplementation or fortified foods to meet their daily requirements.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

Fats, also known as lipids, are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. In the body, fats serve as a major fuel source, providing twice the amount of energy per gram compared to carbohydrates and proteins. They also play crucial roles in maintaining cell membrane structure and function, serving as precursors for various signaling molecules, and assisting in the absorption and transport of fat-soluble vitamins.

There are several types of fats:

1. Saturated fats: These fats contain no double bonds between their carbon atoms and are typically solid at room temperature. They are mainly found in animal products, such as meat, dairy, and eggs, as well as in some plant-based sources like coconut oil and palm kernel oil. Consuming high amounts of saturated fats can raise levels of harmful low-density lipoprotein (LDL) cholesterol in the blood, increasing the risk of heart disease.
2. Unsaturated fats: These fats contain one or more double bonds between their carbon atoms and are usually liquid at room temperature. They can be further divided into monounsaturated fats (one double bond) and polyunsaturated fats (two or more double bonds). Unsaturated fats, especially those from plant sources, tend to have beneficial effects on heart health by lowering LDL cholesterol levels and increasing high-density lipoprotein (HDL) cholesterol levels.
3. Trans fats: These are unsaturated fats that have undergone a process called hydrogenation, which adds hydrogen atoms to the double bonds, making them more saturated and solid at room temperature. Partially hydrogenated trans fats are commonly found in processed foods, such as baked goods, fried foods, and snack foods. Consumption of trans fats has been linked to increased risks of heart disease, stroke, and type 2 diabetes.
4. Omega-3 fatty acids: These are a specific type of polyunsaturated fat that is essential for human health. They cannot be synthesized by the body and must be obtained through diet. Omega-3 fatty acids have been shown to have numerous health benefits, including reducing inflammation, improving heart health, and supporting brain function.
5. Omega-6 fatty acids: These are another type of polyunsaturated fat that is essential for human health. They can be synthesized by the body but must also be obtained through diet. While omega-6 fatty acids are necessary for various bodily functions, excessive consumption can contribute to inflammation and other health issues. It is recommended to maintain a balanced ratio of omega-3 to omega-6 fatty acids in the diet.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Sterol Regulatory Element Binding Protein 2 (SREBP-2) is a transcription factor that plays a crucial role in the regulation of cholesterol homeostasis in the body. It is a member of the SREBP family, which also includes SREBP-1a and SREBP-1c, and is encoded by the SREBF2 gene.

SREBP-2 is primarily involved in the regulation of genes that are necessary for cholesterol synthesis and uptake. When cholesterol levels in the body are low, SREBP-2 gets activated and moves from the endoplasmic reticulum to the Golgi apparatus, where it undergoes proteolytic cleavage to release its active form. The active SREBP-2 then translocates to the nucleus and binds to sterol regulatory elements (SREs) in the promoter regions of target genes, thereby inducing their transcription.

The target genes of SREBP-2 include HMG-CoA reductase, which is a rate-limiting enzyme in cholesterol synthesis, and LDL receptor, which is responsible for the uptake of low-density lipoprotein (LDL) or "bad" cholesterol from the bloodstream. By upregulating the expression of these genes, SREBP-2 helps to increase cholesterol levels in the body and maintain cholesterol homeostasis.

Dysregulation of SREBP-2 has been implicated in various diseases, including atherosclerosis, cardiovascular disease, and cancer.

Phosphatidate phosphatase is an enzyme that plays a crucial role in the metabolism of lipids, particularly in the synthesis of glycerophospholipids, which are key components of cell membranes.

The term "phosphatidate" refers to a type of lipid molecule known as a diacylglycerol phosphate. This molecule contains two fatty acid chains attached to a glycerol backbone, with a phosphate group also attached to the glycerol.

Phosphatidate phosphatase functions to remove the phosphate group from phosphatidate, converting it into diacylglycerol (DAG). This reaction is an important step in the biosynthesis of glycerophospholipids, as DAG can be further metabolized to produce various types of these lipids, including phosphatidylcholine, phosphatidylethanolamine, and phosphatidylinositol.

There are two main types of phosphatidate phosphatase enzymes: type 1 and type 2. Type 1 phosphatidate phosphatase is primarily located in the cytosol and is involved in the synthesis of triacylglycerols, which are stored as energy reserves in cells. Type 2 phosphatidate phosphatase, on the other hand, is found on the endoplasmic reticulum membrane and plays a key role in the biosynthesis of glycerophospholipids.

Deficiencies or mutations in phosphatidate phosphatase enzymes can lead to various metabolic disorders, including some forms of lipodystrophy, which are characterized by abnormalities in fat metabolism and distribution.

Sphingomyelins are a type of sphingolipids, which are a class of lipids that contain sphingosine as a backbone. Sphingomyelins are composed of phosphocholine or phosphoethanolamine bound to the ceramide portion of the molecule through a phosphodiester linkage. They are important components of cell membranes, particularly in the myelin sheath that surrounds nerve fibers. Sphingomyelins can be hydrolyzed by the enzyme sphingomyelinase to form ceramide and phosphorylcholine or phosphorylethanolamine. Abnormalities in sphingomyelin metabolism have been implicated in several diseases, including Niemann-Pick disease, a group of inherited lipid storage disorders.

Palmitic acid is a type of saturated fatty acid, which is a common component in many foods and also produced by the body. Its chemical formula is C16:0, indicating that it contains 16 carbon atoms and no double bonds. Palmitic acid is found in high concentrations in animal fats, such as butter, lard, and beef tallow, as well as in some vegetable oils, like palm kernel oil and coconut oil.

In the human body, palmitic acid can be synthesized from other substances or absorbed through the diet. It plays a crucial role in various biological processes, including energy storage, membrane structure formation, and signaling pathways regulation. However, high intake of palmitic acid has been linked to an increased risk of developing cardiovascular diseases due to its potential to raise low-density lipoprotein (LDL) cholesterol levels in the blood.

It is essential to maintain a balanced diet and consume palmitic acid-rich foods in moderation, along with regular exercise and a healthy lifestyle, to reduce the risk of chronic diseases.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

Fenofibrate is a medication that belongs to the class of drugs known as fibrates. It is primarily used to lower levels of cholesterol and other fats (triglycerides) in the blood. Fenofibrate works by increasing the breakdown and elimination of these fats from the body, which can help reduce the risk of heart disease and stroke.

Fenofibrate is available in various forms, including tablets and capsules, and is typically taken once or twice a day with meals. Common side effects of fenofibrate include headache, nausea, and muscle pain. More serious side effects are rare but can include liver damage, kidney problems, and an increased risk of gallstones.

It's important to note that fenofibrate should be used in conjunction with a healthy diet, regular exercise, and other lifestyle changes to manage high cholesterol and triglyceride levels effectively. Additionally, patients taking fenofibrate should be monitored regularly by their healthcare provider to ensure that the medication is working properly and to check for any potential side effects.

The postprandial period is the time frame following a meal, during which the body is engaged in the process of digestion, absorption, and assimilation of nutrients. In a medical context, this term generally refers to the few hours after eating when the body is responding to the ingested food, particularly in terms of changes in metabolism and insulin levels.

The postprandial period can be of specific interest in the study and management of conditions such as diabetes, where understanding how the body handles glucose during this time can inform treatment decisions and strategies for maintaining healthy blood sugar levels.

Lactates, also known as lactic acid, are compounds that are produced by muscles during intense exercise or other conditions of low oxygen supply. They are formed from the breakdown of glucose in the absence of adequate oxygen to complete the full process of cellular respiration. This results in the production of lactate and a hydrogen ion, which can lead to a decrease in pH and muscle fatigue.

In a medical context, lactates may be measured in the blood as an indicator of tissue oxygenation and metabolic status. Elevated levels of lactate in the blood, known as lactic acidosis, can indicate poor tissue perfusion or hypoxia, and may be seen in conditions such as sepsis, cardiac arrest, and severe shock. It is important to note that lactates are not the primary cause of acidemia (low pH) in lactic acidosis, but rather a marker of the underlying process.

LDL receptors (Low-Density Lipoprotein Receptors) are cell surface receptors that play a crucial role in the regulation of cholesterol homeostasis within the body. They are responsible for recognizing and binding to LDL particles, also known as "bad cholesterol," which are then internalized by the cell through endocytosis.

Once inside the cell, the LDL particles are broken down, releasing their cholesterol content, which can be used for various cellular processes such as membrane synthesis and hormone production. The LDL receptors themselves are recycled back to the cell surface, allowing for continued uptake of LDL particles.

Mutations in the LDL receptor gene can lead to a condition called familial hypercholesterolemia, which is characterized by high levels of LDL cholesterol in the blood and an increased risk of premature cardiovascular disease.

"Cattle" is a term used in the agricultural and veterinary fields to refer to domesticated animals of the genus *Bos*, primarily *Bos taurus* (European cattle) and *Bos indicus* (Zebu). These animals are often raised for meat, milk, leather, and labor. They are also known as bovines or cows (for females), bulls (intact males), and steers/bullocks (castrated males). However, in a strict medical definition, "cattle" does not apply to humans or other animals.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

The Citric Acid Cycle, also known as the Krebs cycle or tricarboxylic acid (TCA) cycle, is a crucial metabolic pathway in the cell's powerhouse, the mitochondria. It plays a central role in the oxidation of acetyl-CoA derived from carbohydrates, fats, and proteins, into carbon dioxide and high-energy electrons. This process generates energy in the form of ATP (adenosine triphosphate), reducing equivalents (NADH and FADH2), and water.

The cycle begins with the condensation of acetyl-CoA with oxaloacetate, forming citrate. Through a series of enzyme-catalyzed reactions, citrate is converted back to oxaloacetate, releasing two molecules of carbon dioxide, one GTP (guanosine triphosphate), three NADH, one FADH2, and regenerating oxaloacetate to continue the cycle. The reduced coenzymes (NADH and FADH2) then donate their electrons to the electron transport chain, driving ATP synthesis through chemiosmosis. Overall, the Citric Acid Cycle is a vital part of cellular respiration, connecting various catabolic pathways and generating energy for the cell's metabolic needs.

Analysis of Variance (ANOVA) is a statistical technique used to compare the means of two or more groups and determine whether there are any significant differences between them. It is a way to analyze the variance in a dataset to determine whether the variability between groups is greater than the variability within groups, which can indicate that the groups are significantly different from one another.

ANOVA is based on the concept of partitioning the total variance in a dataset into two components: variance due to differences between group means (also known as "between-group variance") and variance due to differences within each group (also known as "within-group variance"). By comparing these two sources of variance, ANOVA can help researchers determine whether any observed differences between groups are statistically significant, or whether they could have occurred by chance.

ANOVA is a widely used technique in many areas of research, including biology, psychology, engineering, and business. It is often used to compare the means of two or more experimental groups, such as a treatment group and a control group, to determine whether the treatment had a significant effect. ANOVA can also be used to compare the means of different populations or subgroups within a population, to identify any differences that may exist between them.

Hep G2 cells are a type of human liver cancer cell line that were isolated from a well-differentiated hepatocellular carcinoma (HCC) in a patient with hepatitis C virus (HCV) infection. These cells have the ability to grow and divide indefinitely in culture, making them useful for research purposes. Hep G2 cells express many of the same markers and functions as normal human hepatocytes, including the ability to take up and process lipids and produce bile. They are often used in studies related to hepatitis viruses, liver metabolism, drug toxicity, and cancer biology. It is important to note that Hep G2 cells are tumorigenic and should be handled with care in a laboratory setting.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Inflammation is a complex biological response of tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. It is characterized by the following signs: rubor (redness), tumor (swelling), calor (heat), dolor (pain), and functio laesa (loss of function). The process involves the activation of the immune system, recruitment of white blood cells, and release of inflammatory mediators, which contribute to the elimination of the injurious stimuli and initiation of the healing process. However, uncontrolled or chronic inflammation can also lead to tissue damage and diseases.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Chromatography, gas (GC) is a type of chromatographic technique used to separate, identify, and analyze volatile compounds or vapors. In this method, the sample mixture is vaporized and carried through a column packed with a stationary phase by an inert gas (carrier gas). The components of the mixture get separated based on their partitioning between the mobile and stationary phases due to differences in their adsorption/desorption rates or solubility.

The separated components elute at different times, depending on their interaction with the stationary phase, which can be detected and quantified by various detection systems like flame ionization detector (FID), thermal conductivity detector (TCD), electron capture detector (ECD), or mass spectrometer (MS). Gas chromatography is widely used in fields such as chemistry, biochemistry, environmental science, forensics, and food analysis.

Nervous system diseases, also known as neurological disorders, refer to a group of conditions that affect the nervous system, which includes the brain, spinal cord, nerves, and muscles. These diseases can affect various functions of the body, such as movement, sensation, cognition, and behavior. They can be caused by genetics, infections, injuries, degeneration, or tumors. Examples of nervous system diseases include Alzheimer's disease, Parkinson's disease, multiple sclerosis, epilepsy, migraine, stroke, and neuroinfections like meningitis and encephalitis. The symptoms and severity of these disorders can vary widely, ranging from mild to severe and debilitating.

A computer simulation is a process that involves creating a model of a real-world system or phenomenon on a computer and then using that model to run experiments and make predictions about how the system will behave under different conditions. In the medical field, computer simulations are used for a variety of purposes, including:

1. Training and education: Computer simulations can be used to create realistic virtual environments where medical students and professionals can practice their skills and learn new procedures without risk to actual patients. For example, surgeons may use simulation software to practice complex surgical techniques before performing them on real patients.
2. Research and development: Computer simulations can help medical researchers study the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone. By creating detailed models of cells, tissues, organs, or even entire organisms, researchers can use simulation software to explore how these systems function and how they respond to different stimuli.
3. Drug discovery and development: Computer simulations are an essential tool in modern drug discovery and development. By modeling the behavior of drugs at a molecular level, researchers can predict how they will interact with their targets in the body and identify potential side effects or toxicities. This information can help guide the design of new drugs and reduce the need for expensive and time-consuming clinical trials.
4. Personalized medicine: Computer simulations can be used to create personalized models of individual patients based on their unique genetic, physiological, and environmental characteristics. These models can then be used to predict how a patient will respond to different treatments and identify the most effective therapy for their specific condition.

Overall, computer simulations are a powerful tool in modern medicine, enabling researchers and clinicians to study complex systems and make predictions about how they will behave under a wide range of conditions. By providing insights into the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone, computer simulations are helping to advance our understanding of human health and disease.

Atherosclerosis is a medical condition characterized by the buildup of plaques, made up of fat, cholesterol, calcium, and other substances found in the blood, on the inner walls of the arteries. This process gradually narrows and hardens the arteries, reducing the flow of oxygen-rich blood to various parts of the body. Atherosclerosis can affect any artery in the body, including those that supply blood to the heart (coronary arteries), brain, limbs, and other organs. The progressive narrowing and hardening of the arteries can lead to serious complications such as coronary artery disease, carotid artery disease, peripheral artery disease, and aneurysms, which can result in heart attacks, strokes, or even death if left untreated.

The exact cause of atherosclerosis is not fully understood, but it is believed to be associated with several risk factors, including high blood pressure, high cholesterol levels, smoking, diabetes, obesity, physical inactivity, and a family history of the condition. Atherosclerosis can often progress without any symptoms for many years, but as the disease advances, it can lead to various signs and symptoms depending on which arteries are affected. Treatment typically involves lifestyle changes, medications, and, in some cases, surgical procedures to restore blood flow.

Chylomicrons are a type of lipoprotein that are responsible for carrying dietary lipids, such as triglycerides and cholesterol, from the intestines to other parts of the body through the lymphatic system and bloodstream. They are the largest lipoproteins and are composed of an outer layer of phospholipids, free cholesterol, and apolipoproteins, which surrounds a core of triglycerides and cholesteryl esters. Chylomicrons are produced in the intestinal mucosa after a meal containing fat, and their production is stimulated by the hormone cholecystokinin. Once in the bloodstream, chylomicrons interact with other lipoproteins and enzymes to deliver their lipid cargo to various tissues, including muscle and adipose tissue, where they are used for energy or stored for later use.

Stearoyl-CoA desaturase (SCD) is an enzyme that plays a crucial role in the synthesis of monounsaturated fatty acids (MUFAs) in the body. Specifically, SCD catalyzes the conversion of saturated fatty acids, such as stearic acid and palmitic acid, into MUFAs by introducing a double bond into their carbon chain.

The two main isoforms of SCD in humans are SCD1 and SCD5, with SCD1 being the most well-studied. SCD1 is primarily located in the endoplasmic reticulum of cells in various tissues, including the liver, adipose tissue, and skin.

The regulation of SCD activity has important implications for human health, as MUFAs are essential components of cell membranes and play a role in maintaining their fluidity and functionality. Additionally, abnormal levels of SCD activity have been linked to several diseases, including obesity, insulin resistance, non-alcoholic fatty liver disease (NAFLD), and cardiovascular disease. Therefore, understanding the function and regulation of SCD is an active area of research in the field of lipid metabolism and related diseases.

Inositol is not considered a true "vitamin" because it can be created by the body from glucose. However, it is an important nutrient and is sometimes referred to as vitamin B8. It is a type of sugar alcohol that is found in both animals and plants. Inositol is involved in various biological processes, including:

1. Signal transduction: Inositol phospholipids are key components of cell membranes and play a crucial role in intracellular signaling pathways. They act as secondary messengers in response to hormones, neurotransmitters, and growth factors.
2. Insulin sensitivity: Inositol and its derivatives, such as myo-inositol and D-chiro-inositol, are involved in insulin signal transduction. Abnormalities in inositol metabolism have been linked to insulin resistance and conditions like polycystic ovary syndrome (PCOS).
3. Cerebral and ocular functions: Inositol is essential for the proper functioning of neurons and has been implicated in various neurological and psychiatric disorders, such as depression, anxiety, and bipolar disorder. It also plays a role in maintaining eye health.
4. Lipid metabolism: Inositol participates in the breakdown and transport of fats within the body.
5. Gene expression: Inositol and its derivatives are involved in regulating gene expression through epigenetic modifications.

Inositol can be found in various foods, including fruits, beans, grains, nuts, and vegetables. It is also available as a dietary supplement for those who wish to increase their intake.

Antioxidants are substances that can prevent or slow damage to cells caused by free radicals, which are unstable molecules that the body produces as a reaction to environmental and other pressures. Antioxidants are able to neutralize free radicals by donating an electron to them, thus stabilizing them and preventing them from causing further damage to the cells.

Antioxidants can be found in a variety of foods, including fruits, vegetables, nuts, and grains. Some common antioxidants include vitamins C and E, beta-carotene, and selenium. Antioxidants are also available as dietary supplements.

In addition to their role in protecting cells from damage, antioxidants have been studied for their potential to prevent or treat a number of health conditions, including cancer, heart disease, and age-related macular degeneration. However, more research is needed to fully understand the potential benefits and risks of using antioxidant supplements.

Diacylglycerol O-Acyltransferase (DGAT) is an enzyme that catalyzes the final step in triacylglycerol synthesis, which is the formation of diacylglycerol and fatty acyl-CoA into triacylglycerol. This enzyme plays a crucial role in lipid metabolism and energy storage in cells. There are two main types of DGAT enzymes, DGAT1 and DGAT2, which share limited sequence similarity but have similar functions. Inhibition of DGAT has been explored as a potential therapeutic strategy for the treatment of obesity and related metabolic disorders.

Esterification is a chemical reaction that involves the conversion of an alcohol and a carboxylic acid into an ester, typically through the removal of a molecule of water. This reaction is often catalyzed by an acid or a base, and it is a key process in organic chemistry. Esters are commonly found in nature and are responsible for the fragrances of many fruits and flowers. They are also important in the production of various industrial and consumer products, including plastics, resins, and perfumes.

AMP-activated protein kinases (AMPK) are a group of heterotrimeric enzymes that play a crucial role in cellular energy homeostasis. They are composed of a catalytic subunit (α) and two regulatory subunits (β and γ). AMPK is activated under conditions of low energy charge, such as ATP depletion, hypoxia, or exercise, through an increase in the AMP:ATP ratio.

Once activated, AMPK phosphorylates and regulates various downstream targets involved in metabolic pathways, including glycolysis, fatty acid oxidation, and protein synthesis. This results in the inhibition of energy-consuming processes and the promotion of energy-producing processes, ultimately helping to restore cellular energy balance.

AMPK has been implicated in a variety of physiological processes, including glucose and lipid metabolism, autophagy, mitochondrial biogenesis, and inflammation. Dysregulation of AMPK activity has been linked to several diseases, such as diabetes, obesity, cancer, and neurodegenerative disorders. Therefore, AMPK is an attractive target for therapeutic interventions in these conditions.

Adiponectin is a hormone that is produced and secreted by adipose tissue, which is another name for body fat. This hormone plays an important role in regulating metabolism and energy homeostasis. It helps to regulate glucose levels, break down fatty acids, and has anti-inflammatory effects.

Adiponectin is unique because it is exclusively produced by adipose tissue, and its levels are inversely related to body fat mass. This means that lean individuals tend to have higher levels of adiponectin than obese individuals. Low levels of adiponectin have been associated with an increased risk of developing various metabolic disorders, such as insulin resistance, type 2 diabetes, and cardiovascular disease.

Overall, adiponectin is an important hormone that plays a crucial role in maintaining metabolic health, and its levels may serve as a useful biomarker for assessing metabolic risk.

Ceramides are a type of lipid molecule that are found naturally in the outer layer of the skin (the stratum corneum). They play a crucial role in maintaining the barrier function and hydration of the skin. Ceramides help to seal in moisture, support the structure of the skin, and protect against environmental stressors such as pollution and bacteria.

In addition to their role in the skin, ceramides have also been studied for their potential therapeutic benefits in various medical conditions. For example, abnormal levels of ceramides have been implicated in several diseases, including diabetes, cardiovascular disease, and cancer. As a result, ceramide-based therapies are being investigated as potential treatments for these conditions.

Medically, ceramides may be mentioned in the context of skin disorders or diseases where there is a disruption in the skin's barrier function, such as eczema, psoriasis, and ichthyosis. In these cases, ceramide-based therapies may be used to help restore the skin's natural barrier and improve its overall health and appearance.

Gene expression regulation, enzymologic refers to the biochemical processes and mechanisms that control the transcription and translation of specific genes into functional proteins or enzymes. This regulation is achieved through various enzymatic activities that can either activate or repress gene expression at different levels, such as chromatin remodeling, transcription factor activation, mRNA processing, and protein degradation.

Enzymologic regulation of gene expression involves the action of specific enzymes that catalyze chemical reactions involved in these processes. For example, histone-modifying enzymes can alter the structure of chromatin to make genes more or less accessible for transcription, while RNA polymerase and its associated factors are responsible for transcribing DNA into mRNA. Additionally, various enzymes are involved in post-transcriptional modifications of mRNA, such as splicing, capping, and tailing, which can affect the stability and translation of the transcript.

Overall, the enzymologic regulation of gene expression is a complex and dynamic process that allows cells to respond to changes in their environment and maintain proper physiological function.

Dyslipidemia is a condition characterized by an abnormal amount of cholesterol and/or triglycerides in the blood. It can be caused by genetic factors, lifestyle habits such as poor diet and lack of exercise, or other medical conditions such as diabetes or hypothyroidism.

There are several types of dyslipidemias, including:

1. Hypercholesterolemia: This is an excess of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, in the blood. High levels of LDL cholesterol can lead to the formation of plaque in the arteries, increasing the risk of heart disease and stroke.
2. Hypertriglyceridemia: This is an excess of triglycerides, a type of fat found in the blood, which can also contribute to the development of plaque in the arteries.
3. Mixed dyslipidemia: This is a combination of high LDL cholesterol and high triglycerides.
4. Low high-density lipoprotein (HDL) cholesterol: HDL cholesterol, also known as "good" cholesterol, helps remove LDL cholesterol from the blood. Low levels of HDL cholesterol can increase the risk of heart disease and stroke.

Dyslipidemias often do not cause any symptoms but can be detected through a blood test that measures cholesterol and triglyceride levels. Treatment typically involves lifestyle changes such as eating a healthy diet, getting regular exercise, and quitting smoking. In some cases, medication may also be necessary to lower cholesterol or triglyceride levels.

Weight gain is defined as an increase in body weight over time, which can be attributed to various factors such as an increase in muscle mass, fat mass, or total body water. It is typically measured in terms of pounds or kilograms and can be intentional or unintentional. Unintentional weight gain may be a cause for concern if it's significant or accompanied by other symptoms, as it could indicate an underlying medical condition such as hypothyroidism, diabetes, or heart disease.

It is important to note that while body mass index (BMI) can be used as a general guideline for weight status, it does not differentiate between muscle mass and fat mass. Therefore, an increase in muscle mass through activities like strength training could result in a higher BMI, but this may not necessarily be indicative of increased health risks associated with excess body fat.

Oxygen is a colorless, odorless, tasteless gas that constitutes about 21% of the earth's atmosphere. It is a crucial element for human and most living organisms as it is vital for respiration. Inhaled oxygen enters the lungs and binds to hemoglobin in red blood cells, which carries it to tissues throughout the body where it is used to convert nutrients into energy and carbon dioxide, a waste product that is exhaled.

Medically, supplemental oxygen therapy may be provided to patients with conditions such as chronic obstructive pulmonary disease (COPD), pneumonia, heart failure, or other medical conditions that impair the body's ability to extract sufficient oxygen from the air. Oxygen can be administered through various devices, including nasal cannulas, face masks, and ventilators.

Metabolomics is a branch of "omics" sciences that deals with the comprehensive and quantitative analysis of all metabolites, which are the small molecule intermediates and products of metabolism, in a biological sample. It involves the identification and measurement of these metabolites using various analytical techniques such as mass spectrometry and nuclear magnetic resonance spectroscopy. The resulting data provides a functional readout of the physiological state of an organism, tissue or cell, and can be used to identify biomarkers of disease, understand drug action and toxicity, and reveal new insights into metabolic pathways and regulatory networks.

Dietary cholesterol is a type of cholesterol that comes from the foods we eat. It is present in animal-derived products such as meat, poultry, dairy products, and eggs. While dietary cholesterol can contribute to an increase in blood cholesterol levels for some people, it's important to note that saturated and trans fats have a more significant impact on blood cholesterol levels than dietary cholesterol itself.

The American Heart Association recommends limiting dietary cholesterol intake to less than 300 milligrams per day for most people, and less than 200 milligrams per day for those with a history of heart disease or high cholesterol levels. However, individual responses to dietary cholesterol can vary, so it's essential to monitor blood cholesterol levels and adjust dietary habits accordingly.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Peroxisomes are membrane-bound subcellular organelles found in the cytoplasm of eukaryotic cells. They play a crucial role in various cellular processes, including the breakdown of fatty acids and the detoxification of harmful substances such as hydrogen peroxide (H2O2). Peroxisomes contain numerous enzymes, including catalase, which converts H2O2 into water and oxygen, thus preventing oxidative damage to cellular components. They also participate in the biosynthesis of ether phospholipids, a type of lipid essential for the structure and function of cell membranes. Additionally, peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and contribute to the regulation of intracellular redox homeostasis. Dysfunction or impairment of peroxisome function has been linked to several diseases, including neurological disorders, developmental abnormalities, and metabolic conditions.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Adipogenesis is the process by which precursor cells differentiate into mature adipocytes, or fat cells. This complex biological process involves a series of molecular and cellular events that are regulated by various genetic and epigenetic factors.

During adipogenesis, preadipocytes undergo a series of changes that include cell cycle arrest, morphological alterations, and the expression of specific genes that are involved in lipid metabolism and insulin sensitivity. These changes ultimately result in the formation of mature adipocytes that are capable of storing energy in the form of lipids.

Abnormalities in adipogenesis have been linked to various health conditions, including obesity, type 2 diabetes, and metabolic syndrome. Understanding the molecular mechanisms that regulate adipogenesis is an active area of research, as it may lead to the development of new therapies for these and other related diseases.

"Swine" is a common term used to refer to even-toed ungulates of the family Suidae, including domestic pigs and wild boars. However, in a medical context, "swine" often appears in the phrase "swine flu," which is a strain of influenza virus that typically infects pigs but can also cause illness in humans. The 2009 H1N1 pandemic was caused by a new strain of swine-origin influenza A virus, which was commonly referred to as "swine flu." It's important to note that this virus is not transmitted through eating cooked pork products; it spreads from person to person, mainly through respiratory droplets produced when an infected person coughs or sneezes.

Dietary carbohydrates refer to the organic compounds in food that are primarily composed of carbon, hydrogen, and oxygen atoms, with a general formula of Cm(H2O)n. They are one of the three main macronutrients, along with proteins and fats, that provide energy to the body.

Carbohydrates can be classified into two main categories: simple carbohydrates (also known as simple sugars) and complex carbohydrates (also known as polysaccharides).

Simple carbohydrates are made up of one or two sugar molecules, such as glucose, fructose, and lactose. They are quickly absorbed by the body and provide a rapid source of energy. Simple carbohydrates are found in foods such as fruits, vegetables, dairy products, and sweeteners like table sugar, honey, and maple syrup.

Complex carbohydrates, on the other hand, are made up of long chains of sugar molecules that take longer to break down and absorb. They provide a more sustained source of energy and are found in foods such as whole grains, legumes, starchy vegetables, and nuts.

It is recommended that adults consume between 45-65% of their daily caloric intake from carbohydrates, with a focus on complex carbohydrates and limiting added sugars.

Fish oils are a type of fat or lipid derived from the tissues of oily fish. They are a rich source of omega-3 fatty acids, specifically eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA). These fatty acids have been associated with various health benefits such as reducing inflammation, decreasing the risk of heart disease, improving brain function, and promoting eye health. Fish oils can be consumed through diet or taken as a dietary supplement in the form of capsules or liquid. It is important to note that while fish oils have potential health benefits, they should not replace a balanced diet and medical advice should be sought before starting any supplementation.

Tissue distribution, in the context of pharmacology and toxicology, refers to the way that a drug or xenobiotic (a chemical substance found within an organism that is not naturally produced by or expected to be present within that organism) is distributed throughout the body's tissues after administration. It describes how much of the drug or xenobiotic can be found in various tissues and organs, and is influenced by factors such as blood flow, lipid solubility, protein binding, and the permeability of cell membranes. Understanding tissue distribution is important for predicting the potential effects of a drug or toxin on different parts of the body, and for designing drugs with improved safety and efficacy profiles.

Intestinal absorption refers to the process by which the small intestine absorbs water, nutrients, and electrolytes from food into the bloodstream. This is a critical part of the digestive process, allowing the body to utilize the nutrients it needs and eliminate waste products. The inner wall of the small intestine contains tiny finger-like projections called villi, which increase the surface area for absorption. Nutrients are absorbed into the bloodstream through the walls of the capillaries in these villi, and then transported to other parts of the body for use or storage.

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

A kidney, in medical terms, is one of two bean-shaped organs located in the lower back region of the body. They are essential for maintaining homeostasis within the body by performing several crucial functions such as:

1. Regulation of water and electrolyte balance: Kidneys help regulate the amount of water and various electrolytes like sodium, potassium, and calcium in the bloodstream to maintain a stable internal environment.

2. Excretion of waste products: They filter waste products from the blood, including urea (a byproduct of protein metabolism), creatinine (a breakdown product of muscle tissue), and other harmful substances that result from normal cellular functions or external sources like medications and toxins.

3. Endocrine function: Kidneys produce several hormones with important roles in the body, such as erythropoietin (stimulates red blood cell production), renin (regulates blood pressure), and calcitriol (activated form of vitamin D that helps regulate calcium homeostasis).

4. pH balance regulation: Kidneys maintain the proper acid-base balance in the body by excreting either hydrogen ions or bicarbonate ions, depending on whether the blood is too acidic or too alkaline.

5. Blood pressure control: The kidneys play a significant role in regulating blood pressure through the renin-angiotensin-aldosterone system (RAAS), which constricts blood vessels and promotes sodium and water retention to increase blood volume and, consequently, blood pressure.

Anatomically, each kidney is approximately 10-12 cm long, 5-7 cm wide, and 3 cm thick, with a weight of about 120-170 grams. They are surrounded by a protective layer of fat and connected to the urinary system through the renal pelvis, ureters, bladder, and urethra.

"Palmitates" are salts or esters of palmitic acid, a saturated fatty acid that is commonly found in animals and plants. Palmitates can be found in various substances, including cosmetics, food additives, and medications. For example, sodium palmitate is a common ingredient in soaps and detergents, while retinyl palmitate is a form of vitamin A used in skin care products and dietary supplements.

In a medical context, "palmitates" may be mentioned in the results of laboratory tests that measure lipid metabolism or in discussions of nutrition and dietary fats. However, it is important to note that "palmitates" themselves are not typically a focus of medical diagnosis or treatment, but rather serve as components of various substances that may have medical relevance.

Membrane fluidity, in the context of cell biology, refers to the ability of the phospholipid bilayer that makes up the cell membrane to change its structure and organization in response to various factors. The membrane is not a static structure but rather a dynamic one, with its lipids constantly moving and changing position.

Membrane fluidity is determined by the fatty acid composition of the phospholipids that make up the bilayer. Lipids with unsaturated fatty acids have kinks in their hydrocarbon chains, which prevent them from packing closely together and increase membrane fluidity. In contrast, lipids with saturated fatty acids can pack closely together, reducing membrane fluidity.

Membrane fluidity is important for various cellular processes, including the movement of proteins within the membrane, the fusion of vesicles with the membrane during exocytosis and endocytosis, and the ability of the membrane to respond to changes in temperature and other environmental factors. Abnormalities in membrane fluidity have been linked to various diseases, including cancer, neurological disorders, and infectious diseases.

Molecular structure, in the context of biochemistry and molecular biology, refers to the arrangement and organization of atoms and chemical bonds within a molecule. It describes the three-dimensional layout of the constituent elements, including their spatial relationships, bond lengths, and angles. Understanding molecular structure is crucial for elucidating the functions and reactivities of biological macromolecules such as proteins, nucleic acids, lipids, and carbohydrates. Various experimental techniques, like X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and cryo-electron microscopy (cryo-EM), are employed to determine molecular structures at atomic resolution, providing valuable insights into their biological roles and potential therapeutic targets.

Immunologic deficiency syndromes refer to a group of disorders characterized by defective functioning of the immune system, leading to increased susceptibility to infections and malignancies. These deficiencies can be primary (genetic or congenital) or secondary (acquired due to environmental factors, medications, or diseases).

Primary immunodeficiency syndromes (PIDS) are caused by inherited genetic mutations that affect the development and function of immune cells, such as T cells, B cells, and phagocytes. Examples include severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, and X-linked agammaglobulinemia.

Secondary immunodeficiency syndromes can result from various factors, including:

1. HIV/AIDS: Human Immunodeficiency Virus infection leads to the depletion of CD4+ T cells, causing profound immune dysfunction and increased vulnerability to opportunistic infections and malignancies.
2. Medications: Certain medications, such as chemotherapy, immunosuppressive drugs, and long-term corticosteroid use, can impair immune function and increase infection risk.
3. Malnutrition: Deficiencies in essential nutrients like protein, vitamins, and minerals can weaken the immune system and make individuals more susceptible to infections.
4. Aging: The immune system naturally declines with age, leading to an increased incidence of infections and poorer vaccine responses in older adults.
5. Other medical conditions: Chronic diseases such as diabetes, cancer, and chronic kidney or liver disease can also compromise the immune system and contribute to immunodeficiency syndromes.

Immunologic deficiency syndromes require appropriate diagnosis and management strategies, which may include antimicrobial therapy, immunoglobulin replacement, hematopoietic stem cell transplantation, or targeted treatments for the underlying cause.

Esters are organic compounds that are formed by the reaction between an alcohol and a carboxylic acid. They are widely found in nature and are used in various industries, including the production of perfumes, flavors, and pharmaceuticals. In the context of medical definitions, esters may be mentioned in relation to their use as excipients in medications or in discussions of organic chemistry and biochemistry. Esters can also be found in various natural substances such as fats and oils, which are triesters of glycerol and fatty acids.

The intestines, also known as the bowel, are a part of the digestive system that extends from the stomach to the anus. They are responsible for the further breakdown and absorption of nutrients from food, as well as the elimination of waste products. The intestines can be divided into two main sections: the small intestine and the large intestine.

The small intestine is a long, coiled tube that measures about 20 feet in length and is lined with tiny finger-like projections called villi, which increase its surface area and enhance nutrient absorption. The small intestine is where most of the digestion and absorption of nutrients takes place.

The large intestine, also known as the colon, is a wider tube that measures about 5 feet in length and is responsible for absorbing water and electrolytes from digested food, forming stool, and eliminating waste products from the body. The large intestine includes several regions, including the cecum, colon, rectum, and anus.

Together, the intestines play a critical role in maintaining overall health and well-being by ensuring that the body receives the nutrients it needs to function properly.

Apolipoprotein A (apoA) is a type of apolipoprotein that is primarily associated with high-density lipoproteins (HDL), often referred to as "good cholesterol." There are several subtypes of apoA, including apoA-I, apoA-II, and apoA-IV.

ApoA-I is the major protein component of HDL particles and plays a crucial role in reverse cholesterol transport, which is the process by which excess cholesterol is removed from tissues and delivered to the liver for excretion. Low levels of apoA-I have been linked to an increased risk of cardiovascular disease.

ApoA-II is another protein component of HDL particles, although its function is less well understood than that of apoA-I. Some studies suggest that apoA-II may play a role in regulating the metabolism of HDL particles.

ApoA-IV is found in both HDL and chylomicrons, which are lipoprotein particles that transport dietary lipids from the intestine to the liver. The function of apoA-IV is not well understood, but it may play a role in regulating appetite and energy metabolism.

Overall, apolipoproteins A are important components of HDL particles and play a critical role in maintaining healthy lipid metabolism and reducing the risk of cardiovascular disease.

Hypertriglyceridemia is a medical condition characterized by an elevated level of triglycerides in the blood. Triglycerides are a type of fat (lipid) found in your blood that can increase the risk of developing heart disease, especially when levels are very high.

In general, hypertriglyceridemia is defined as having triglyceride levels greater than 150 milligrams per deciliter (mg/dL) of blood. However, the specific definition of hypertriglyceridemia may vary depending on individual risk factors and medical history.

Hypertriglyceridemia can be caused by a variety of factors, including genetics, obesity, physical inactivity, excessive alcohol consumption, and certain medications. In some cases, it may also be a secondary consequence of other medical conditions such as diabetes or hypothyroidism. Treatment for hypertriglyceridemia typically involves lifestyle modifications such as dietary changes, increased exercise, and weight loss, as well as medication if necessary.

ATP-binding cassette (ABC) transporters are a family of membrane proteins that utilize the energy from ATP hydrolysis to transport various substrates across extra- and intracellular membranes. These transporters play crucial roles in several biological processes, including detoxification, drug resistance, nutrient uptake, and regulation of cellular cholesterol homeostasis.

The structure of ABC transporters consists of two nucleotide-binding domains (NBDs) that bind and hydrolyze ATP, and two transmembrane domains (TMDs) that form the substrate-translocation pathway. The NBDs are typically located adjacent to each other in the cytoplasm, while the TMDs can be either integral membrane domains or separate structures associated with the membrane.

The human genome encodes 48 distinct ABC transporters, which are classified into seven subfamilies (ABCA-ABCG) based on their sequence similarity and domain organization. Some well-known examples of ABC transporters include P-glycoprotein (ABCB1), multidrug resistance protein 1 (ABCC1), and breast cancer resistance protein (ABCG2).

Dysregulation or mutations in ABC transporters have been implicated in various diseases, such as cystic fibrosis, neurological disorders, and cancer. In cancer, overexpression of certain ABC transporters can contribute to drug resistance by actively effluxing chemotherapeutic agents from cancer cells, making them less susceptible to treatment.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

Species specificity is a term used in the field of biology, including medicine, to refer to the characteristic of a biological entity (such as a virus, bacterium, or other microorganism) that allows it to interact exclusively or preferentially with a particular species. This means that the biological entity has a strong affinity for, or is only able to infect, a specific host species.

For example, HIV is specifically adapted to infect human cells and does not typically infect other animal species. Similarly, some bacterial toxins are species-specific and can only affect certain types of animals or humans. This concept is important in understanding the transmission dynamics and host range of various pathogens, as well as in developing targeted therapies and vaccines.

Ketone bodies, also known as ketones or ketoacids, are organic compounds that are produced by the liver during the metabolism of fats when carbohydrate intake is low. They include acetoacetate (AcAc), beta-hydroxybutyrate (BHB), and acetone. These molecules serve as an alternative energy source for the body, particularly for the brain and heart, when glucose levels are insufficient to meet energy demands.

In a healthy individual, ketone bodies are present in low concentrations; however, during periods of fasting, starvation, or intense physical exertion, ketone production increases significantly. In some pathological conditions like uncontrolled diabetes mellitus, the body may produce excessive amounts of ketones, leading to a dangerous metabolic state called diabetic ketoacidosis (DKA).

Elevated levels of ketone bodies can be detected in blood or urine and are often used as an indicator of metabolic status. Monitoring ketone levels is essential for managing certain medical conditions, such as diabetes, where maintaining optimal ketone concentrations is crucial to prevent complications.

Bile is a digestive fluid that is produced by the liver and stored in the gallbladder. It plays an essential role in the digestion and absorption of fats and fat-soluble vitamins in the small intestine. Bile consists of bile salts, bilirubin, cholesterol, phospholipids, electrolytes, and water.

Bile salts are amphipathic molecules that help to emulsify fats into smaller droplets, increasing their surface area and allowing for more efficient digestion by enzymes such as lipase. Bilirubin is a breakdown product of hemoglobin from red blood cells and gives bile its characteristic greenish-brown color.

Bile is released into the small intestine in response to food, particularly fats, entering the digestive tract. It helps to break down large fat molecules into smaller ones that can be absorbed through the walls of the intestines and transported to other parts of the body for energy or storage.

A dietary supplement is a product that contains nutrients, such as vitamins, minerals, amino acids, herbs or other botanicals, and is intended to be taken by mouth, to supplement the diet. Dietary supplements can include a wide range of products, such as vitamin and mineral supplements, herbal supplements, and sports nutrition products.

Dietary supplements are not intended to treat, diagnose, cure, or alleviate the effects of diseases. They are intended to be used as a way to add extra nutrients to the diet or to support specific health functions. It is important to note that dietary supplements are not subject to the same rigorous testing and regulations as drugs, so it is important to choose products carefully and consult with a healthcare provider if you have any questions or concerns about using them.

Palmitic acid is a type of saturated fatty acid, which is a common component in many foods and also produced naturally by the human body. Its chemical formula is C16H32O2. It's named after palm trees because it was first isolated from palm oil, although it can also be found in other vegetable oils, animal fats, and dairy products.

In the human body, palmitic acid plays a role in energy production and storage. However, consuming large amounts of this fatty acid has been linked to an increased risk of heart disease due to its association with elevated levels of bad cholesterol (LDL). The World Health Organization recommends limiting the consumption of saturated fats, including palmitic acid, to less than 10% of total energy intake.

Enzymes are complex proteins that act as catalysts to speed up chemical reactions in the body. They help to lower activation energy required for reactions to occur, thereby enabling the reaction to happen faster and at lower temperatures. Enzymes work by binding to specific molecules, called substrates, and converting them into different molecules, called products. This process is known as catalysis.

Enzymes are highly specific and will only catalyze one particular reaction with a specific substrate. The shape of the enzyme's active site, where the substrate binds, determines this specificity. Enzymes can be regulated by various factors such as temperature, pH, and the presence of inhibitors or activators. They play a crucial role in many biological processes, including digestion, metabolism, and DNA replication.

"Random allocation," also known as "random assignment" or "randomization," is a process used in clinical trials and other research studies to distribute participants into different intervention groups (such as experimental group vs. control group) in a way that minimizes selection bias and ensures the groups are comparable at the start of the study.

In random allocation, each participant has an equal chance of being assigned to any group, and the assignment is typically made using a computer-generated randomization schedule or other objective methods. This process helps to ensure that any differences between the groups are due to the intervention being tested rather than pre-existing differences in the participants' characteristics.

Temperature, in a medical context, is a measure of the degree of hotness or coldness of a body or environment. It is usually measured using a thermometer and reported in degrees Celsius (°C), degrees Fahrenheit (°F), or kelvin (K). In the human body, normal core temperature ranges from about 36.5-37.5°C (97.7-99.5°F) when measured rectally, and can vary slightly depending on factors such as time of day, physical activity, and menstrual cycle. Elevated body temperature is a common sign of infection or inflammation, while abnormally low body temperature can indicate hypothermia or other medical conditions.

Pyruvic acid, also known as 2-oxopropanoic acid, is a key metabolic intermediate in both anaerobic and aerobic respiration. It is a carboxylic acid with a ketone functional group, making it a β-ketoacid. In the cytosol, pyruvate is produced from glucose during glycolysis, where it serves as a crucial link between the anaerobic breakdown of glucose and the aerobic process of cellular respiration in the mitochondria.

During low oxygen availability or high energy demands, pyruvate can be converted into lactate through anaerobic glycolysis, allowing for the continued production of ATP (adenosine triphosphate) without oxygen. In the presence of adequate oxygen and functional mitochondria, pyruvate is transported into the mitochondrial matrix where it undergoes oxidative decarboxylation to form acetyl-CoA by the enzyme pyruvate dehydrogenase complex (PDC). This reaction also involves the reduction of NAD+ to NADH and the release of CO2. Acetyl-CoA then enters the citric acid cycle, where it is further oxidized to produce energy in the form of ATP, NADH, FADH2, and GTP (guanosine triphosphate) through a series of enzymatic reactions.

In summary, pyruvic acid is a vital metabolic intermediate that plays a significant role in energy production pathways, connecting glycolysis to both anaerobic and aerobic respiration.

Macrophages are a type of white blood cell that are an essential part of the immune system. They are large, specialized cells that engulf and destroy foreign substances, such as bacteria, viruses, parasites, and fungi, as well as damaged or dead cells. Macrophages are found throughout the body, including in the bloodstream, lymph nodes, spleen, liver, lungs, and connective tissues. They play a critical role in inflammation, immune response, and tissue repair and remodeling.

Macrophages originate from monocytes, which are a type of white blood cell produced in the bone marrow. When monocytes enter the tissues, they differentiate into macrophages, which have a larger size and more specialized functions than monocytes. Macrophages can change their shape and move through tissues to reach sites of infection or injury. They also produce cytokines, chemokines, and other signaling molecules that help coordinate the immune response and recruit other immune cells to the site of infection or injury.

Macrophages have a variety of surface receptors that allow them to recognize and respond to different types of foreign substances and signals from other cells. They can engulf and digest foreign particles, bacteria, and viruses through a process called phagocytosis. Macrophages also play a role in presenting antigens to T cells, which are another type of immune cell that helps coordinate the immune response.

Overall, macrophages are crucial for maintaining tissue homeostasis, defending against infection, and promoting wound healing and tissue repair. Dysregulation of macrophage function has been implicated in a variety of diseases, including cancer, autoimmune disorders, and chronic inflammatory conditions.

Acyltransferases are a group of enzymes that catalyze the transfer of an acyl group (a functional group consisting of a carbon atom double-bonded to an oxygen atom and single-bonded to a hydrogen atom) from one molecule to another. This transfer involves the formation of an ester bond between the acyl group donor and the acyl group acceptor.

Acyltransferases play important roles in various biological processes, including the biosynthesis of lipids, fatty acids, and other metabolites. They are also involved in the detoxification of xenobiotics (foreign substances) by catalyzing the addition of an acyl group to these compounds, making them more water-soluble and easier to excrete from the body.

Examples of acyltransferases include serine palmitoyltransferase, which is involved in the biosynthesis of sphingolipids, and cholesteryl ester transfer protein (CETP), which facilitates the transfer of cholesteryl esters between lipoproteins.

Acyltransferases are classified based on the type of acyl group they transfer and the nature of the acyl group donor and acceptor molecules. They can be further categorized into subclasses based on their sequence similarities, three-dimensional structures, and evolutionary relationships.

Glycolipids are a type of lipid (fat) molecule that contain one or more sugar molecules attached to them. They are important components of cell membranes, where they play a role in cell recognition and signaling. Glycolipids are also found on the surface of some viruses and bacteria, where they can be recognized by the immune system as foreign invaders.

There are several different types of glycolipids, including cerebrosides, gangliosides, and globosides. These molecules differ in the number and type of sugar molecules they contain, as well as the structure of their lipid tails. Glycolipids are synthesized in the endoplasmic reticulum and Golgi apparatus of cells, and they are transported to the cell membrane through vesicles.

Abnormalities in glycolipid metabolism or structure have been implicated in a number of diseases, including certain types of cancer, neurological disorders, and autoimmune diseases. For example, mutations in genes involved in the synthesis of glycolipids can lead to conditions such as Tay-Sachs disease and Gaucher's disease, which are characterized by the accumulation of abnormal glycolipids in cells.

CD36 is a type of protein found on the surface of certain cells in the human body, including platelets, white blood cells (monocytes and macrophages), and fat (adipose) cells. It is a type of scavenger receptor that plays a role in various biological processes, such as:

1. Fatty acid uptake and metabolism: CD36 helps facilitate the transport of long-chain fatty acids into cells for energy production and storage.
2. Inflammation and immune response: CD36 is involved in the recognition and clearance of foreign substances (pathogens) and damaged or dying cells, which can trigger an immune response.
3. Angiogenesis: CD36 has been implicated in the regulation of blood vessel formation (angiogenesis), particularly during wound healing and tumor growth.
4. Atherosclerosis: CD36 has been associated with the development and progression of atherosclerosis, a condition characterized by the buildup of fats, cholesterol, and other substances in and on the artery walls. This is due to its role in the uptake of oxidized low-density lipoprotein (oxLDL) by macrophages, leading to the formation of foam cells and the development of fatty streaks in the arterial wall.
5. Infectious diseases: CD36 has been identified as a receptor for various pathogens, including malaria parasites, HIV, and some bacteria, which can use this protein to gain entry into host cells.

As an antigen, CD36 is a molecule that can be targeted by the immune system to produce an immune response. Antibodies against CD36 have been found in various diseases, such as autoimmune disorders and certain infections. Modulation of CD36 activity has been suggested as a potential therapeutic strategy for several conditions, including atherosclerosis, diabetes, and infectious diseases.

Carbon dioxide (CO2) is a colorless, odorless gas that is naturally present in the Earth's atmosphere. It is a normal byproduct of cellular respiration in humans, animals, and plants, and is also produced through the combustion of fossil fuels such as coal, oil, and natural gas.

In medical terms, carbon dioxide is often used as a respiratory stimulant and to maintain the pH balance of blood. It is also used during certain medical procedures, such as laparoscopic surgery, to insufflate (inflate) the abdominal cavity and create a working space for the surgeon.

Elevated levels of carbon dioxide in the body can lead to respiratory acidosis, a condition characterized by an increased concentration of carbon dioxide in the blood and a decrease in pH. This can occur in conditions such as chronic obstructive pulmonary disease (COPD), asthma, or other lung diseases that impair breathing and gas exchange. Symptoms of respiratory acidosis may include shortness of breath, confusion, headache, and in severe cases, coma or death.

Triolein is a type of triglyceride, which is a kind of fat molecule. More specifically, triolein is the triglyceride formed from three molecules of oleic acid, a common monounsaturated fatty acid. It is often used in scientific research and studies involving lipid metabolism, and it can be found in various vegetable oils and animal fats.

Anticholesteremic agents are a class of medications that are used to lower the levels of cholesterol and other fats called lipids in the blood. These medications work by reducing the production of cholesterol in the body, increasing the removal of cholesterol from the bloodstream, or preventing the absorption of cholesterol in the digestive tract.

There are several types of anticholesteremic agents, including:

1. Statins: These medications work by blocking a liver enzyme that is necessary for the production of cholesterol. Examples of statins include atorvastatin, simvastatin, and rosuvastatin.
2. Bile acid sequestrants: These medications bind to bile acids in the digestive tract and prevent them from being reabsorbed into the bloodstream. This causes the liver to produce more bile acids, which in turn lowers cholesterol levels. Examples of bile acid sequestrants include cholestyramine and colesevelam.
3. Nicotinic acid: Also known as niacin, this medication works by reducing the production of very low-density lipoproteins (VLDL) in the liver, which are a major source of bad cholesterol.
4. Fibrates: These medications work by increasing the removal of cholesterol from the bloodstream and reducing the production of VLDL in the liver. Examples of fibrates include gemfibrozil and fenofibrate.
5. PCSK9 inhibitors: These are a newer class of medications that work by blocking the action of a protein called PCSK9, which helps regulate the amount of cholesterol in the blood. By blocking PCSK9, these medications increase the number of LDL receptors on the surface of liver cells, which leads to increased removal of LDL from the bloodstream.

Anticholesteremic agents are often prescribed for people who have high cholesterol levels and are at risk for heart disease or stroke. By lowering cholesterol levels, these medications can help reduce the risk of heart attack, stroke, and other cardiovascular events.

The myocardium is the middle layer of the heart wall, composed of specialized cardiac muscle cells that are responsible for pumping blood throughout the body. It forms the thickest part of the heart wall and is divided into two sections: the left ventricle, which pumps oxygenated blood to the rest of the body, and the right ventricle, which pumps deoxygenated blood to the lungs.

The myocardium contains several types of cells, including cardiac muscle fibers, connective tissue, nerves, and blood vessels. The muscle fibers are arranged in a highly organized pattern that allows them to contract in a coordinated manner, generating the force necessary to pump blood through the heart and circulatory system.

Damage to the myocardium can occur due to various factors such as ischemia (reduced blood flow), infection, inflammation, or genetic disorders. This damage can lead to several cardiac conditions, including heart failure, arrhythmias, and cardiomyopathy.

Peroxisome Proliferator-Activated Receptor Delta (PPAR-δ) is a subtype of the nuclear hormone receptor superfamily, PPARs. It plays a crucial role in regulating genes involved in lipid metabolism, glucose homeostasis, and inflammation.

PPAR-δ is widely expressed in various tissues, including skeletal muscle, adipose tissue, liver, heart, and brain. In the skeletal muscle, PPAR-δ activation promotes fatty acid oxidation, improves insulin sensitivity, and increases exercise endurance. In adipose tissue, it enhances lipolysis and reduces lipogenesis. In the liver, PPAR-δ activation decreases triglyceride levels and improves glucose tolerance.

PPAR-δ agonists have been studied for their potential therapeutic benefits in treating metabolic disorders such as dyslipidemia, type 2 diabetes, and nonalcoholic fatty liver disease (NAFLD). However, further research is needed to fully understand the implications of PPAR-δ modulation in human health and disease.

Ethanol is the medical term for pure alcohol, which is a colorless, clear, volatile, flammable liquid with a characteristic odor and burning taste. It is the type of alcohol that is found in alcoholic beverages and is produced by the fermentation of sugars by yeasts.

In the medical field, ethanol is used as an antiseptic and disinfectant, and it is also used as a solvent for various medicinal preparations. It has central nervous system depressant properties and is sometimes used as a sedative or to induce sleep. However, excessive consumption of ethanol can lead to alcohol intoxication, which can cause a range of negative health effects, including impaired judgment, coordination, and memory, as well as an increased risk of accidents, injuries, and chronic diseases such as liver disease and addiction.

Thiobarbituric acid reactive substances (TBARS) is not a medical term per se, but rather a method used to measure lipid peroxidation in biological samples. Lipid peroxidation is a process by which free radicals steal electrons from lipids, leading to cellular damage and potential disease progression.

The TBARS assay measures the amount of malondialdehyde (MDA), a byproduct of lipid peroxidation, that reacts with thiobarbituric acid (TBA) to produce a pink-colored complex. The concentration of this complex is then measured and used as an indicator of lipid peroxidation in the sample.

While TBARS has been widely used as a measure of oxidative stress, it has limitations, including potential interference from other compounds that can react with TBA and produce similar-colored complexes. Therefore, more specific and sensitive methods for measuring lipid peroxidation have since been developed.

Palmitoyl-CoA hydrolase is an enzyme that catalyzes the hydrolysis of palmitoyl-coenzyme A (palmitoyl-CoA) to produce free coenzyme A (CoA) and palmitic acid. Palmitoyl-CoA is a fatty acyl-CoA ester that plays a central role in lipid metabolism, particularly in the synthesis of complex lipids such as triacylglycerols and phospholipids.

The reaction catalyzed by palmitoyl-CoA hydrolase is:

palmitoyl-CoA + H2O → CoA + palmitic acid

This enzyme is important for regulating the levels of palmitoyl-CoA in cells and may play a role in the development of metabolic disorders such as obesity and non-alcoholic fatty liver disease. Palmitoyl-CoA hydrolase has also been studied as a potential target for the development of therapies to treat these conditions.

Acetyl-CoA carboxylase (ACCA) is a biotin-dependent enzyme that plays a crucial role in fatty acid synthesis. It catalyzes the conversion of acetyl-CoA to malonyl-CoA, which is the first and rate-limiting step in the synthesis of long-chain fatty acids. The reaction catalyzed by ACCA is as follows:

acetyl-CoA + HCO3- + ATP + 2H+ --> malonyl-CoA + CoA + ADP + Pi + 2H2O

ACCA exists in two isoforms, a cytosolic form (ACC1) and a mitochondrial form (ACC2). ACC1 is primarily involved in fatty acid synthesis, while ACC2 is responsible for the regulation of fatty acid oxidation. The activity of ACCA is regulated by several factors, including phosphorylation/dephosphorylation, allosteric regulation, and transcriptional regulation. Dysregulation of ACCA has been implicated in various metabolic disorders, such as obesity, insulin resistance, and non-alcoholic fatty liver disease.

Monounsaturated fatty acids (MUFAs) are a type of fatty acid that contains one double bond in its chemical structure. The presence of the double bond means that there is one less hydrogen atom, hence the term "unsaturated." In monounsaturated fats, the double bond occurs between the second and third carbon atoms in the chain, which makes them "mono"unsaturated.

MUFAs are considered to be a healthy type of fat because they can help reduce levels of harmful cholesterol (low-density lipoprotein or LDL) while maintaining levels of beneficial cholesterol (high-density lipoprotein or HDL). They have also been associated with a reduced risk of heart disease and improved insulin sensitivity.

Common sources of monounsaturated fats include olive oil, canola oil, avocados, nuts, and seeds. It is recommended to consume MUFAs as part of a balanced diet that includes a variety of nutrient-dense foods.

Phospholipid transfer proteins (PLTPs) are a group of proteins found in the bloodstream that play a crucial role in the distribution and metabolism of phospholipids, which are key components of cell membranes. These proteins facilitate the transfer of phospholipids between different lipoprotein particles, such as high-density lipoproteins (HDL) and low-density lipoproteins (LDL), in a process known as non-vesicular lipid transport.

PLTPs can also modulate the size, composition, and function of these lipoprotein particles, which has implications for lipid metabolism, inflammation, and atherosclerosis. Additionally, PLTPs have been implicated in various physiological processes, including cell signaling, membrane trafficking, and host defense mechanisms.

It is worth noting that while PLTPs are important regulators of lipid metabolism, their precise role in human health and disease is still an area of active research.

Fructose is a simple monosaccharide, also known as "fruit sugar." It is a naturally occurring carbohydrate that is found in fruits, vegetables, and honey. Fructose has the chemical formula C6H12O6 and is a hexose, or six-carbon sugar.

Fructose is absorbed directly into the bloodstream during digestion and is metabolized primarily in the liver. It is sweeter than other sugars such as glucose and sucrose (table sugar), which makes it a popular sweetener in many processed foods and beverages. However, consuming large amounts of fructose can have negative health effects, including increasing the risk of obesity, diabetes, and heart disease.

Arginine is an α-amino acid that is classified as a semi-essential or conditionally essential amino acid, depending on the developmental stage and health status of the individual. The adult human body can normally synthesize sufficient amounts of arginine to meet its needs, but there are certain circumstances, such as periods of rapid growth or injury, where the dietary intake of arginine may become necessary.

The chemical formula for arginine is C6H14N4O2. It has a molecular weight of 174.20 g/mol and a pKa value of 12.48. Arginine is a basic amino acid, which means that it contains a side chain with a positive charge at physiological pH levels. The side chain of arginine is composed of a guanidino group, which is a functional group consisting of a nitrogen atom bonded to three methyl groups.

In the body, arginine plays several important roles. It is a precursor for the synthesis of nitric oxide, a molecule that helps regulate blood flow and immune function. Arginine is also involved in the detoxification of ammonia, a waste product produced by the breakdown of proteins. Additionally, arginine can be converted into other amino acids, such as ornithine and citrulline, which are involved in various metabolic processes.

Foods that are good sources of arginine include meat, poultry, fish, dairy products, nuts, seeds, and legumes. Arginine supplements are available and may be used for a variety of purposes, such as improving exercise performance, enhancing wound healing, and boosting immune function. However, it is important to consult with a healthcare provider before taking arginine supplements, as they can interact with certain medications and have potential side effects.

Tritium is not a medical term, but it is a term used in the field of nuclear physics and chemistry. Tritium (symbol: T or 3H) is a radioactive isotope of hydrogen with two neutrons and one proton in its nucleus. It is also known as heavy hydrogen or superheavy hydrogen.

Tritium has a half-life of about 12.3 years, which means that it decays by emitting a low-energy beta particle (an electron) to become helium-3. Due to its radioactive nature and relatively short half-life, tritium is used in various applications, including nuclear weapons, fusion reactors, luminous paints, and medical research.

In the context of medicine, tritium may be used as a radioactive tracer in some scientific studies or medical research, but it is not a term commonly used to describe a medical condition or treatment.

Adenosine Triphosphate (ATP) is a high-energy molecule that stores and transports energy within cells. It is the main source of energy for most cellular processes, including muscle contraction, nerve impulse transmission, and protein synthesis. ATP is composed of a base (adenine), a sugar (ribose), and three phosphate groups. The bonds between these phosphate groups contain a significant amount of energy, which can be released when the bond between the second and third phosphate group is broken, resulting in the formation of adenosine diphosphate (ADP) and inorganic phosphate. This process is known as hydrolysis and can be catalyzed by various enzymes to drive a wide range of cellular functions. ATP can also be regenerated from ADP through various metabolic pathways, such as oxidative phosphorylation or substrate-level phosphorylation, allowing for the continuous supply of energy to cells.

I cannot precisely define "obese mice" from a medical perspective because "obesity" is typically defined for humans and companion animals based on body weight relative to body size. However, I can provide you with relevant information regarding obese mice in a research or laboratory context.

Obesity in mice is often induced by providing them with a high-fat diet (HFD) to promote excessive weight gain and metabolic dysfunction. This allows researchers to study the effects of obesity on various health parameters, such as insulin resistance, inflammation, and cardiovascular function.

In laboratory settings, mice are often considered obese if their body weight is 10-20% higher than the average for their strain, age, and sex. Researchers also use body mass index (BMI) or body fat percentage to determine obesity in mice. For example:

* Body Mass Index (BMI): Mice with a BMI greater than 0.69 g/cm² are considered obese. To calculate BMI, divide the body weight in grams by the square of the nose-to-anus length in centimeters.
* Body Fat Percentage: Obesity can also be determined based on body fat percentage using non-invasive methods like magnetic resonance imaging (MRI) or computed tomography (CT) scans. Mice with more than 45% body fat are generally considered obese.

It is important to note that these thresholds may vary depending on the mouse strain, age, and sex. Researchers should consult relevant literature for their specific experimental setup when defining obesity in mice.

Arachidonic acid is a type of polyunsaturated fatty acid that is found naturally in the body and in certain foods. It is an essential fatty acid, meaning that it cannot be produced by the human body and must be obtained through the diet. Arachidonic acid is a key component of cell membranes and plays a role in various physiological processes, including inflammation and blood clotting.

In the body, arachidonic acid is released from cell membranes in response to various stimuli, such as injury or infection. Once released, it can be converted into a variety of bioactive compounds, including prostaglandins, thromboxanes, and leukotrienes, which mediate various physiological responses, including inflammation, pain, fever, and blood clotting.

Arachidonic acid is found in high concentrations in animal products such as meat, poultry, fish, and eggs, as well as in some plant sources such as certain nuts and seeds. It is also available as a dietary supplement. However, it is important to note that excessive intake of arachidonic acid can contribute to the development of inflammation and other health problems, so it is recommended to consume this fatty acid in moderation as part of a balanced diet.

Apolipoprotein C-III (APOC3) is a protein that is produced in the liver and circulates in the bloodstream. It is a component of certain lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for transporting fat molecules, such as triglycerides and cholesterol, throughout the body.

APOC3 plays a role in regulating the metabolism of these lipoproteins. Specifically, it inhibits the activity of an enzyme called lipoprotein lipase, which breaks down triglycerides in VLDL and chylomicrons. As a result, high levels of APOC3 can lead to an increase in triglyceride levels in the blood, which is a risk factor for cardiovascular disease.

Genetic variations in the APOC3 gene have been associated with differences in triglyceride levels and risk of cardiovascular disease. Some studies have suggested that reducing APOC3 levels through genetic editing or other means may be a promising strategy for lowering triglycerides and reducing the risk of heart disease.

Docosahexaenoic acid (DHA) is a type of long-chain omega-3 fatty acid that is essential for human health. It is an important structural component of the phospholipid membranes in the brain and retina, and plays a crucial role in the development and function of the nervous system. DHA is also involved in various physiological processes, including inflammation, blood pressure regulation, and immune response.

DHA is not produced in sufficient quantities by the human body and must be obtained through dietary sources or supplements. The richest dietary sources of DHA are fatty fish such as salmon, mackerel, and sardines, as well as algae and other marine organisms. DHA can also be found in fortified foods such as eggs, milk, and juice.

Deficiency in DHA has been linked to various health issues, including cognitive decline, vision problems, and cardiovascular disease. Therefore, it is recommended that individuals consume adequate amounts of DHA through diet or supplementation to maintain optimal health.

Arteriosclerosis is a general term that describes the hardening and stiffening of the artery walls. It's a progressive condition that can occur as a result of aging, or it may be associated with certain risk factors such as high blood pressure, high cholesterol, diabetes, smoking, and a sedentary lifestyle.

The process of arteriosclerosis involves the buildup of plaque, made up of fat, cholesterol, calcium, and other substances, in the inner lining of the artery walls. Over time, this buildup can cause the artery walls to thicken and harden, reducing the flow of oxygen-rich blood to the body's organs and tissues.

Arteriosclerosis can affect any of the body's arteries, but it is most commonly found in the coronary arteries that supply blood to the heart, the cerebral arteries that supply blood to the brain, and the peripheral arteries that supply blood to the limbs. When arteriosclerosis affects the coronary arteries, it can lead to heart disease, angina, or heart attack. When it affects the cerebral arteries, it can lead to stroke or transient ischemic attack (TIA). When it affects the peripheral arteries, it can cause pain, numbness, or weakness in the limbs, and in severe cases, gangrene and amputation.

Real-Time Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences in real-time. It is a sensitive and specific method that allows for the quantification of target nucleic acids, such as DNA or RNA, through the use of fluorescent reporter molecules.

The RT-PCR process involves several steps: first, the template DNA is denatured to separate the double-stranded DNA into single strands. Then, primers (short sequences of DNA) specific to the target sequence are added and allowed to anneal to the template DNA. Next, a heat-stable enzyme called Taq polymerase adds nucleotides to the annealed primers, extending them along the template DNA until a new double-stranded DNA molecule is formed.

During each amplification cycle, fluorescent reporter molecules are added that bind specifically to the newly synthesized DNA. As more and more copies of the target sequence are generated, the amount of fluorescence increases in proportion to the number of copies present. This allows for real-time monitoring of the PCR reaction and quantification of the target nucleic acid.

RT-PCR is commonly used in medical diagnostics, research, and forensics to detect and quantify specific DNA or RNA sequences. It has been widely used in the diagnosis of infectious diseases, genetic disorders, and cancer, as well as in the identification of microbial pathogens and the detection of gene expression.

Linoleic acid is an essential polyunsaturated fatty acid, specifically an omega-6 fatty acid. It is called "essential" because our bodies cannot produce it; therefore, it must be obtained through our diet. Linoleic acid is a crucial component of cell membranes and is involved in the production of prostaglandins, which are hormone-like substances that regulate various bodily functions such as inflammation, blood pressure, and muscle contraction.

Foods rich in linoleic acid include vegetable oils (such as soybean, corn, and sunflower oil), nuts, seeds, and some fruits and vegetables. It is important to maintain a balance between omega-6 and omega-3 fatty acids in the diet, as excessive consumption of omega-6 fatty acids can contribute to inflammation and other health issues.

Hypoglycemic agents are a class of medications that are used to lower blood glucose levels in the treatment of diabetes mellitus. These medications work by increasing insulin sensitivity, stimulating insulin release from the pancreas, or inhibiting glucose production in the liver. Examples of hypoglycemic agents include sulfonylureas, meglitinides, biguanides, thiazolidinediones, DPP-4 inhibitors, SGLT2 inhibitors, and GLP-1 receptor agonists. It's important to note that the term "hypoglycemic" refers to a condition of abnormally low blood glucose levels, but in this context, the term is used to describe agents that are used to treat high blood glucose levels (hyperglycemia) associated with diabetes.

Isoenzymes, also known as isoforms, are multiple forms of an enzyme that catalyze the same chemical reaction but differ in their amino acid sequence, structure, and/or kinetic properties. They are encoded by different genes or alternative splicing of the same gene. Isoenzymes can be found in various tissues and organs, and they play a crucial role in biological processes such as metabolism, detoxification, and cell signaling. Measurement of isoenzyme levels in body fluids (such as blood) can provide valuable diagnostic information for certain medical conditions, including tissue damage, inflammation, and various diseases.

Nitrogen is not typically referred to as a medical term, but it is an element that is crucial to medicine and human life.

In a medical context, nitrogen is often mentioned in relation to gas analysis, respiratory therapy, or medical gases. Nitrogen (N) is a colorless, odorless, and nonreactive gas that makes up about 78% of the Earth's atmosphere. It is an essential element for various biological processes, such as the growth and maintenance of organisms, because it is a key component of amino acids, nucleic acids, and other organic compounds.

In some medical applications, nitrogen is used to displace oxygen in a mixture to create a controlled environment with reduced oxygen levels (hypoxic conditions) for therapeutic purposes, such as in certain types of hyperbaric chambers. Additionally, nitrogen gas is sometimes used in cryotherapy, where extremely low temperatures are applied to tissues to reduce pain, swelling, and inflammation.

However, it's important to note that breathing pure nitrogen can be dangerous, as it can lead to unconsciousness and even death due to lack of oxygen (asphyxiation) within minutes.

Choline is an essential nutrient that is vital for the normal functioning of all cells, particularly those in the brain and liver. It is a water-soluble compound that is neither a vitamin nor a mineral, but is often grouped with vitamins because it has many similar functions. Choline is a precursor to the neurotransmitter acetylcholine, which plays an important role in memory, mood, and other cognitive processes. It also helps to maintain the structural integrity of cell membranes and is involved in the transport and metabolism of fats.

Choline can be synthesized by the body in small amounts, but it is also found in a variety of foods such as eggs, meat, fish, nuts, and cruciferous vegetables. Some people may require additional choline through supplementation, particularly if they follow a vegetarian or vegan diet, are pregnant or breastfeeding, or have certain medical conditions that affect choline metabolism.

Deficiency in choline can lead to a variety of health problems, including liver disease, muscle damage, and neurological disorders. On the other hand, excessive intake of choline can cause fishy body odor, sweating, and gastrointestinal symptoms such as diarrhea and vomiting. It is important to maintain adequate levels of choline through a balanced diet and, if necessary, supplementation under the guidance of a healthcare professional.

Bacterial proteins are a type of protein that are produced by bacteria as part of their structural or functional components. These proteins can be involved in various cellular processes, such as metabolism, DNA replication, transcription, and translation. They can also play a role in bacterial pathogenesis, helping the bacteria to evade the host's immune system, acquire nutrients, and multiply within the host.

Bacterial proteins can be classified into different categories based on their function, such as:

1. Enzymes: Proteins that catalyze chemical reactions in the bacterial cell.
2. Structural proteins: Proteins that provide structural support and maintain the shape of the bacterial cell.
3. Signaling proteins: Proteins that help bacteria to communicate with each other and coordinate their behavior.
4. Transport proteins: Proteins that facilitate the movement of molecules across the bacterial cell membrane.
5. Toxins: Proteins that are produced by pathogenic bacteria to damage host cells and promote infection.
6. Surface proteins: Proteins that are located on the surface of the bacterial cell and interact with the environment or host cells.

Understanding the structure and function of bacterial proteins is important for developing new antibiotics, vaccines, and other therapeutic strategies to combat bacterial infections.

Recombinant proteins are artificially created proteins produced through the use of recombinant DNA technology. This process involves combining DNA molecules from different sources to create a new set of genes that encode for a specific protein. The resulting recombinant protein can then be expressed, purified, and used for various applications in research, medicine, and industry.

Recombinant proteins are widely used in biomedical research to study protein function, structure, and interactions. They are also used in the development of diagnostic tests, vaccines, and therapeutic drugs. For example, recombinant insulin is a common treatment for diabetes, while recombinant human growth hormone is used to treat growth disorders.

The production of recombinant proteins typically involves the use of host cells, such as bacteria, yeast, or mammalian cells, which are engineered to express the desired protein. The host cells are transformed with a plasmid vector containing the gene of interest, along with regulatory elements that control its expression. Once the host cells are cultured and the protein is expressed, it can be purified using various chromatography techniques.

Overall, recombinant proteins have revolutionized many areas of biology and medicine, enabling researchers to study and manipulate proteins in ways that were previously impossible.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Fluorinated hydrocarbons are organic compounds that contain fluorine and carbon atoms. These compounds can be classified into two main groups: fluorocarbons (which consist only of fluorine and carbon) and fluorinated aliphatic or aromatic hydrocarbons (which contain hydrogen in addition to fluorine and carbon).

Fluorocarbons are further divided into three categories: fully fluorinated compounds (perfluorocarbons, PFCs), partially fluorinated compounds (hydrochlorofluorocarbons, HCFCs, and hydrofluorocarbons, HFCs), and chlorofluorocarbons (CFCs). These compounds have been widely used as refrigerants, aerosol propellants, fire extinguishing agents, and cleaning solvents due to their chemical stability, low toxicity, and non-flammability.

Fluorinated aliphatic or aromatic hydrocarbons are organic compounds that contain fluorine, carbon, and hydrogen atoms. Examples include fluorinated alcohols, ethers, amines, and halogenated compounds. These compounds have a wide range of applications in industry, medicine, and research due to their unique chemical properties.

It is important to note that some fluorinated hydrocarbons can contribute to the depletion of the ozone layer and global warming, making it essential to regulate their use and production.

The proteome is the entire set of proteins produced or present in an organism, system, organ, or cell at a certain time under specific conditions. It is a dynamic collection of protein species that changes over time, responding to various internal and external stimuli such as disease, stress, or environmental factors. The study of the proteome, known as proteomics, involves the identification and quantification of these protein components and their post-translational modifications, providing valuable insights into biological processes, functional pathways, and disease mechanisms.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

Glutathione is a tripeptide composed of three amino acids: cysteine, glutamic acid, and glycine. It is a vital antioxidant that plays an essential role in maintaining cellular health and function. Glutathione helps protect cells from oxidative stress by neutralizing free radicals, which are unstable molecules that can damage cells and contribute to aging and diseases such as cancer, heart disease, and dementia. It also supports the immune system, detoxifies harmful substances, and regulates various cellular processes, including DNA synthesis and repair.

Glutathione is found in every cell of the body, with particularly high concentrations in the liver, lungs, and eyes. The body can produce its own glutathione, but levels may decline with age, illness, or exposure to toxins. As such, maintaining optimal glutathione levels through diet, supplementation, or other means is essential for overall health and well-being.

Thiazolidinediones are a class of medications used to treat type 2 diabetes. They work by increasing the body's sensitivity to insulin, which helps to control blood sugar levels. These drugs bind to peroxisome proliferator-activated receptors (PPARs), specifically PPAR-gamma, and modulate gene expression related to glucose metabolism and lipid metabolism.

Examples of thiazolidinediones include pioglitazone and rosiglitazone. Common side effects of these medications include weight gain, fluid retention, and an increased risk of bone fractures. They have also been associated with an increased risk of heart failure and bladder cancer, which has led to restrictions or withdrawal of some thiazolidinediones in various countries.

It is important to note that thiazolidinediones should be used under the close supervision of a healthcare provider and in conjunction with lifestyle modifications such as diet and exercise.

Animal feed refers to any substance or mixture of substances, whether processed, unprocessed, or partially processed, which is intended to be used as food for animals, including fish, without further processing. It includes ingredients such as grains, hay, straw, oilseed meals, and by-products from the milling, processing, and manufacturing industries. Animal feed can be in the form of pellets, crumbles, mash, or other forms, and is used to provide nutrients such as energy, protein, fiber, vitamins, and minerals to support the growth, reproduction, and maintenance of animals. It's important to note that animal feed must be safe, nutritious, and properly labeled to ensure the health and well-being of the animals that consume it.

Feces are the solid or semisolid remains of food that could not be digested or absorbed in the small intestine, along with bacteria and other waste products. After being stored in the colon, feces are eliminated from the body through the rectum and anus during defecation. Feces can vary in color, consistency, and odor depending on a person's diet, health status, and other factors.

Phosphatidylglycerols are a type of glycerophospholipids, which are major components of biological membranes. They are composed of a glycerol backbone to which two fatty acid chains and a phosphate group are attached. In the case of phosphatidylglycerols, the phosphate group is linked to a glycerol molecule through an ester bond, forming a phosphoglyceride.

Phosphatidylglycerols are unique because they have an additional glycerol molecule attached to the phosphate group, making them more complex than other glycerophospholipids such as phosphatidylcholine or phosphatidylethanolamine. This additional glycerol moiety can be further modified by the addition of various headgroups, leading to the formation of different subclasses of phosphatidylglycerols.

In biological membranes, phosphatidylglycerols are often found in the inner leaflet of the mitochondrial membrane and play important roles in maintaining the structure and function of this organelle. They have also been implicated in various cellular processes such as membrane fusion, protein trafficking, and bacterial cell wall biosynthesis.

Hydrogen-ion concentration, also known as pH, is a measure of the acidity or basicity of a solution. It is defined as the negative logarithm (to the base 10) of the hydrogen ion activity in a solution. The standard unit of measurement is the pH unit. A pH of 7 is neutral, less than 7 is acidic, and greater than 7 is basic.

In medical terms, hydrogen-ion concentration is important for maintaining homeostasis within the body. For example, in the stomach, a high hydrogen-ion concentration (low pH) is necessary for the digestion of food. However, in other parts of the body such as blood, a high hydrogen-ion concentration can be harmful and lead to acidosis. Conversely, a low hydrogen-ion concentration (high pH) in the blood can lead to alkalosis. Both acidosis and alkalosis can have serious consequences on various organ systems if not corrected.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

VLDL, or very low-density lipoproteins, are a type of lipoprotein that carries triglycerides and cholesterol from the liver to other parts of the body. Cholesterol is a fatty substance found in the blood, and VLDL contains both triglycerides and cholesterol.

Cholesterol itself cannot dissolve in the blood and needs to be transported around the body by lipoproteins, which are protein molecules that encapsulate and carry fat molecules, such as cholesterol and triglycerides, through the bloodstream. VLDL is one of several types of lipoproteins, including low-density lipoproteins (LDL) and high-density lipoproteins (HDL).

Elevated levels of VLDL in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Therefore, maintaining healthy levels of VLDL and other lipoproteins is an important part of overall cardiovascular health.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

Fatty acid synthase (FAS) is a multi-enzyme complex that plays a crucial role in the synthesis of long-chain fatty acids in the body. There are two main types of FAS: type I and type II.

Type I fatty acid synthase, also known as FASN, is found primarily in the cytoplasm of cells in tissues such as the liver, adipose tissue, and lactating mammary glands. It is a large protein made up of several distinct enzymatic domains that work together to synthesize long-chain fatty acids from acetyl-CoA and malonyl-CoA.

The process of fatty acid synthesis involves a series of reactions, starting with the condensation of acetyl-CoA and malonyl-CoA to form acetoacetyl-CoA. This reaction is followed by a series of reductions, dehydrations, and another reduction to form a saturated fatty acid molecule with 16 carbons (palmitate).

Type I FAS is often upregulated in conditions associated with increased lipogenesis, such as obesity, metabolic syndrome, and certain types of cancer. Inhibiting FAS has been explored as a potential therapeutic strategy for treating these conditions.

"Energy intake" is a medical term that refers to the amount of energy or calories consumed through food and drink. It is an important concept in the study of nutrition, metabolism, and energy balance, and is often used in research and clinical settings to assess an individual's dietary habits and health status.

Energy intake is typically measured in kilocalories (kcal) or joules (J), with one kcal equivalent to approximately 4.184 J. The recommended daily energy intake varies depending on factors such as age, sex, weight, height, physical activity level, and overall health status.

It's important to note that excessive energy intake, particularly when combined with a sedentary lifestyle, can lead to weight gain and an increased risk of chronic diseases such as obesity, type 2 diabetes, and cardiovascular disease. On the other hand, inadequate energy intake can lead to malnutrition, decreased immune function, and other health problems. Therefore, it's essential to maintain a balanced energy intake that meets individual nutritional needs while promoting overall health and well-being.

Propionates, in a medical context, most commonly refer to a group of medications that are used as topical creams or gels to treat fungal infections of the skin. Propionic acid and its salts, such as propionate, are the active ingredients in these medications. They work by inhibiting the growth of fungi, which causes the infection. Common examples of propionate-containing medications include creams used to treat athlete's foot, ringworm, and jock itch.

It is important to note that there are many different types of medications and compounds that contain the word "propionate" in their name, as it refers to a specific chemical structure. However, in a medical context, it most commonly refers to antifungal creams or gels.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Linoleic acid is a type of polyunsaturated fatty acid (PUFA) that is essential for human health. It is one of the two essential fatty acids, meaning that it cannot be produced by the body and must be obtained through diet.

Linoleic acid is a member of the omega-6 fatty acid family and has a chemical structure with two double bonds at the sixth and ninth carbon atoms from the methyl end of the molecule. It is found in various plant sources, such as vegetable oils (e.g., soybean, corn, safflower, and sunflower oils), nuts, seeds, and whole grains.

Linoleic acid plays a crucial role in maintaining the fluidity and function of cell membranes, producing eicosanoids (hormone-like substances that regulate various bodily functions), and supporting skin health. However, excessive intake of linoleic acid can lead to an imbalance between omega-6 and omega-3 fatty acids, which may contribute to inflammation and chronic diseases. Therefore, it is recommended to maintain a balanced diet with appropriate amounts of both omega-6 and omega-3 fatty acids.

Indirect calorimetry is a method used to estimate an individual's energy expenditure or metabolic rate. It does not directly measure the heat produced by the body, but instead calculates it based on the amount of oxygen consumed and carbon dioxide produced during respiration. The principle behind indirect calorimetry is that the body's energy production is closely related to its consumption of oxygen and production of carbon dioxide during cellular metabolism.

The most common application of indirect calorimetry is in measuring an individual's resting metabolic rate (RMR), which is the amount of energy required to maintain basic bodily functions while at rest. This measurement can be used to determine an individual's daily caloric needs and help guide weight loss or gain strategies, as well as assess nutritional status and health.

Indirect calorimetry can also be used in clinical settings to monitor the energy expenditure of critically ill patients, who may have altered metabolic rates due to illness or injury. This information can help healthcare providers optimize nutrition support and monitor recovery.

Overall, indirect calorimetry is a valuable tool for assessing an individual's energy needs and metabolic status in both healthy and clinical populations.

Oral administration is a route of giving medications or other substances by mouth. This can be in the form of tablets, capsules, liquids, pastes, or other forms that can be swallowed. Once ingested, the substance is absorbed through the gastrointestinal tract and enters the bloodstream to reach its intended target site in the body. Oral administration is a common and convenient route of medication delivery, but it may not be appropriate for all substances or in certain situations, such as when rapid onset of action is required or when the patient has difficulty swallowing.

Adipose tissue, brown, also known as brown adipose tissue (BAT), is a type of fat in mammals that plays a crucial role in non-shivering thermogenesis, which is the process of generating heat and maintaining body temperature through the burning of calories. Unlike white adipose tissue, which primarily stores energy in the form of lipids, brown adipose tissue contains numerous mitochondria rich in iron, giving it a brown appearance. These mitochondria contain a protein called uncoupling protein 1 (UCP1), which allows for the efficient conversion of stored energy into heat rather than ATP production.

Brown adipose tissue is typically found in newborns and hibernating animals, but recent studies have shown that adults also possess functional brown adipose tissue, particularly around the neck, shoulders, and spine. The activation of brown adipose tissue has been suggested as a potential strategy for combating obesity and related metabolic disorders due to its ability to burn calories and increase energy expenditure. However, further research is needed to fully understand the mechanisms underlying brown adipose tissue function and its therapeutic potential in treating these conditions.

I couldn't find a medical definition specifically for "Diabetes Mellitus, Experimental." However, I can provide you with information about experimental diabetes research and its relevance to understanding the disease.

Experimental diabetes models are used in biomedical research to study the pathophysiology of diabetes mellitus and to test potential therapies or treatments. These models can be broadly categorized into two types: chemically-induced and genetically modified.

1. Chemically-induced diabetes models: These involve administering chemicals, such as alloxan or streptozotocin, to animals (commonly mice or rats) to destroy their pancreatic β-cells, which produce insulin. This results in hyperglycemia and symptoms similar to those seen in type 1 diabetes in humans.
2. Genetically modified diabetes models: These involve altering the genes of animals (commonly mice) to create a diabetes phenotype. Examples include non-obese diabetic (NOD) mice, which develop an autoimmune form of diabetes similar to human type 1 diabetes, and various strains of obese mice with insulin resistance, such as ob/ob or db/db mice, which model aspects of type 2 diabetes.

These experimental models help researchers better understand the mechanisms behind diabetes development and progression, identify new therapeutic targets, and test potential treatments before moving on to human clinical trials. However, it's essential to recognize that these models may not fully replicate all aspects of human diabetes, so findings from animal studies should be interpreted with caution.

Microsomes are subcellular membranous vesicles that are obtained as a byproduct during the preparation of cellular homogenates. They are not naturally occurring structures within the cell, but rather formed due to fragmentation of the endoplasmic reticulum (ER) during laboratory procedures. Microsomes are widely used in various research and scientific studies, particularly in the fields of biochemistry and pharmacology.

Microsomes are rich in enzymes, including the cytochrome P450 system, which is involved in the metabolism of drugs, toxins, and other xenobiotics. These enzymes play a crucial role in detoxifying foreign substances and eliminating them from the body. As such, microsomes serve as an essential tool for studying drug metabolism, toxicity, and interactions, allowing researchers to better understand and predict the effects of various compounds on living organisms.

3-Hydroxybutyric acid, also known as β-hydroxybutyric acid, is a type of ketone body that is produced in the liver during the metabolism of fatty acids. It is a colorless, slightly water-soluble compound with a bitter taste and an unpleasant odor.

In the body, 3-hydroxybutyric acid is produced when there is not enough glucose available to meet the body's energy needs, such as during fasting, starvation, or prolonged intense exercise. It can also be produced in large amounts in people with uncontrolled diabetes, particularly during a condition called diabetic ketoacidosis.

3-Hydroxybutyric acid is an important source of energy for the brain and other organs during periods of low glucose availability. However, high levels of 3-hydroxybutyric acid in the blood can lead to a condition called ketosis, which can cause symptoms such as nausea, vomiting, abdominal pain, and confusion. If left untreated, ketosis can progress to diabetic ketoacidosis, a potentially life-threatening complication of diabetes.

Cytochrome P-450 CYP3A is a subfamily of the cytochrome P-450 enzyme superfamily, which are primarily involved in drug metabolism in the human body. These enzymes are found predominantly in the liver, but also in other tissues such as the small intestine, kidneys, and brain.

CYP3A enzymes are responsible for metabolizing a wide variety of drugs, including many statins, benzodiazepines, antidepressants, and opioids. They can also metabolize endogenous compounds such as steroids and bile acids. The activity of CYP3A enzymes can be influenced by various factors, including genetic polymorphisms, age, sex, pregnancy, and the presence of other drugs or diseases.

The name "cytochrome P-450" refers to the fact that these enzymes contain a heme group that absorbs light at a wavelength of 450 nanometers when it is complexed with carbon monoxide. The term "CYP3A" denotes the specific subfamily of cytochrome P-450 enzymes that share a high degree of sequence similarity and function.

Glucose metabolism disorders are a group of conditions that result from abnormalities in the body's ability to produce, store, or use glucose, which is a simple sugar that serves as the primary source of energy for the body's cells. These disorders can be categorized into two main types: those caused by insufficient insulin production (such as type 1 diabetes) and those caused by impaired insulin action (such as type 2 diabetes).

In healthy individuals, glucose is absorbed from food during digestion and enters the bloodstream. The pancreas responds to this increase in blood glucose levels by releasing insulin, a hormone that signals cells throughout the body to take up glucose from the bloodstream and use it for energy production or storage.

Glucose metabolism disorders can disrupt this process at various stages, leading to high blood glucose levels (hyperglycemia) or low blood glucose levels (hypoglycemia). Some common examples of these disorders include:

1. Diabetes Mellitus: A group of metabolic disorders characterized by high blood glucose levels due to insufficient insulin production, impaired insulin action, or both. Type 1 diabetes results from the autoimmune destruction of pancreatic beta-cells that produce insulin, while type 2 diabetes is caused by a combination of insulin resistance and inadequate insulin secretion.
2. Gestational Diabetes: A form of high blood glucose that develops during pregnancy due to hormonal changes that impair insulin action.
3. Prediabetes: A condition where blood glucose levels are higher than normal but not yet high enough to be classified as diabetes.
4. Hypoglycemia: Abnormally low blood glucose levels, which can result from certain medications, hormonal deficiencies, or other medical conditions.
5. Glycogen Storage Diseases: A group of rare inherited metabolic disorders that affect the body's ability to store and break down glycogen, a complex carbohydrate that serves as an energy reserve in muscles and the liver.
6. Maturity-Onset Diabetes of the Young (MODY): A group of monogenic forms of diabetes caused by mutations in specific genes involved in insulin secretion or action.
7. Glucose Galactose Malabsorption: An inherited disorder that impairs the absorption of glucose and galactose, leading to severe diarrhea, dehydration, and high blood glucose levels.
8. Fructose Intolerance: A condition where the body cannot metabolize fructose properly due to a deficiency in the enzyme aldolase B, resulting in abdominal pain, diarrhea, and high blood glucose levels.

I believe there may be some confusion in your question. "Rabbits" is a common name used to refer to the Lagomorpha species, particularly members of the family Leporidae. They are small mammals known for their long ears, strong legs, and quick reproduction.

However, if you're referring to "rabbits" in a medical context, there is a term called "rabbit syndrome," which is a rare movement disorder characterized by repetitive, involuntary movements of the fingers, resembling those of a rabbit chewing. It is also known as "finger-chewing chorea." This condition is usually associated with certain medications, particularly antipsychotics, and typically resolves when the medication is stopped or adjusted.

Physiological adaptation refers to the changes or modifications that occur in an organism's biological functions or structures as a result of environmental pressures or changes. These adaptations enable the organism to survive and reproduce more successfully in its environment. They can be short-term, such as the constriction of blood vessels in response to cold temperatures, or long-term, such as the evolution of longer limbs in animals that live in open environments.

In the context of human physiology, examples of physiological adaptation include:

1. Acclimatization: The process by which the body adjusts to changes in environmental conditions, such as altitude or temperature. For example, when a person moves to a high-altitude location, their body may produce more red blood cells to compensate for the lower oxygen levels, leading to improved oxygen delivery to tissues.

2. Exercise adaptation: Regular physical activity can lead to various physiological adaptations, such as increased muscle strength and endurance, enhanced cardiovascular function, and improved insulin sensitivity.

3. Hormonal adaptation: The body can adjust hormone levels in response to changes in the environment or internal conditions. For instance, during prolonged fasting, the body releases stress hormones like cortisol and adrenaline to help maintain energy levels and prevent muscle wasting.

4. Sensory adaptation: Our senses can adapt to different stimuli over time. For example, when we enter a dark room after being in bright sunlight, it takes some time for our eyes to adjust to the new light level. This process is known as dark adaptation.

5. Aging-related adaptations: As we age, various physiological changes occur that help us adapt to the changing environment and maintain homeostasis. These include changes in body composition, immune function, and cognitive abilities.

... and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to ... Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation ... Articles with short description, Short description matches Wikidata, Fatty acids, Lipid metabolism disorders). ... Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in ...
Inborn error of lipid metabolism Reference, Genetics Home. "3-hydroxyacyl-CoA dehydrogenase deficiency". Genetics Home ...
Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism. These ... and are any one of several inborn errors of metabolism that result from enzyme or transport protein defects affecting the ... Miller DN, Bazzano G; Bazzano (1965). "Propanediol metabolism and its relation to lactic acid metabolism". Ann NY Acad Sci. 119 ... D-lactate metabolism (to glucose) is slow or impaired in humans, so most of the D-lactate is excreted in the urine; thus D- ...
They are an inborn error of lipid metabolism, and when it affects the muscles also a metabolic myopathy. The enzyme or ... Fatty-acid metabolism disorders are sometimes classified with the lipid metabolism disorders, but in other contexts they are ... It is only useful for Specific fatty-acid metabolism disease. Mitochondrion Fatty acid metabolism Beta oxidation Metabolic ... "Fatty Acid and Glycerol Metabolism Disorders: Inherited Disorders of Metabolism: Merck Manual Professional". Retrieved 2009-03- ...
... lipid metabolism, adolescent gynecology, or inborn errors of metabolism.[citation needed] In the United States and Canada, ... Many pediatric endocrinologists have interests and expertise in bone metabolism, ...
... disorders (including inborn errors of lipid metabolism) are illnesses where trouble occurs in breaking down or ... Metabolic processes include lipid digestion, lipid absorption, lipid transportation, lipid storage, lipid catabolism, and lipid ... Other types of lipids found in the body are fatty acids and membrane lipids. Lipid metabolism is often considered as the ... Since lipids are hydrophobic molecules, they need to be solubilized before their metabolism can begin. Lipid metabolism often ...
... inborn errors of lipid metabolism (fatty acid metabolism disorder), inborn error of purine-pyrimidine metabolism (such as AMP ... Metabolic myopathies are further categorized by the system that they affect: inborn errors of carbohydrate metabolism ( ... Metabolic myopathies are inherited inborn errors of metabolism that affect the ability of the muscle to produce ATP, either ...
... lipid metabolism, inborn errors MeSH C18.452.648.556.475 - hypercholesterolemia, familial MeSH C18.452.648.556.480 - ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ...
... lipid metabolism, inborn errors MeSH C16.320.565.556.475 - hypercholesterolemia, familial MeSH C16.320.565.556.480 - ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ...
Iron metabolism disorders Lipid metabolism disorders Malabsorption syndromes Metabolic syndrome X Inborn error of metabolism ... These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur ... cite journal}}: Cite journal requires ,journal= (help) "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. ... Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism DNA repair-deficiency disorders Glucose metabolism ...
Of these, 18 have been associated with human disease as inborn errors of metabolism. Furthermore, studies indicate that lipid ... Accordingly, cancer cells can display irregular lipid metabolism with regard to both fatty acid synthesis and mitochondrial ... Fatty acid metabolism Fatty-acid metabolism disorder Lipolysis Krebs cycle Omega oxidation Alpha oxidation Houten SM, Wanders ... In biochemistry and metabolism, beta oxidation (also β-oxidation) is the catabolic process by which fatty acid molecules are ...
... is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is ... Inborn errors of metabolism, Glycoprotein metabolism disorders, Membrane transport protein disorders, Congenital disorders of ... Inborn error of metabolism Leukocyte adhesion deficiency PMM2 deficiency Jaeken J, Carchon H (1993). "The carbohydrate- ... All N-linked oligosaccharides originate from a common lipid-linked oligosaccharide (LLO) precursor, synthesized in the ER on a ...
... two inborn errors of cholesterol metabolism. He played a prime role in the identification of several apolipoproteins (proteins ... principally of the lipid and cholesterol metabolism, and director of National Institutes of Health and subsequently the Howard ... Fredrickson returned to the NIH, resuming work on lipid diseases and writing for the National Library of Medicine. He ... developed an interest in the metabolism of cholesterol and lipoproteins, as well as related medical conditions such as Niemann- ...
Full genome sequencing Inborn error of metabolism Predictive medicine "American Board of Medical Genetics and Genomics". abmgg. ... and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, ... In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential ... Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have ...
... is an inborn error of metabolism involving isoleucine catabolism and ketone body metabolism. The major clinical manifestations ... Mammalian nonspecific lipid-transfer protein (nsL-TP) (also known as sterol carrier protein 2) is a protein which seems to ... Mitchell GA, Fukao T (2001). "Inborn errors of ketone body metabolism". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The ... Hovik R, Brodal B, Bartlett K, Osmundsen H (June 1991). "Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation ...
... and mutations in the gene lead to an inborn error of vitamin B5 (pantothenate) metabolism. Vitamin B5 is required for the ... Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in ... and cofactor metabolism disorders, Syndromes affecting the nervous system). ...
"Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe ... The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of ... Lipid Res. 38 (5): 1053-8. doi:10.1016/S0022-2275(20)37229-1. PMID 9186922. Li-Hawkins J, Lund EG, Turley SD, Russell DW (June ... Lipid Res. 40 (12): 2195-203. doi:10.1016/S0022-2275(20)32094-0. PMID 10588945. v t e (Articles with short description, Short ...
... an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine Wolff also provided the ... He later conducted research into the role of lipid disturbance in childhood as a precursor of coronary artery disease and his ... He discovered Abetalipoproteinemia, a disorder of blood lipids, that interferes with the normal absorption of fat and fat- ... Later research into plasma lipids with Harold Salt pioneered the techniques of lipoprotein electrophoresis. ...
September 2010). "Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism ... In vitro studies demonstrate enzymatic hydrolysis of monoacylglycerol long lipid chains by ABHD12. ABHD12 can use both 1(3)-AG ... Journal of Lipid Research. 53 (11): 2413-24. doi:10.1194/jlr.M030411. PMC 3466009. PMID 22969151. Fiskerstrand T, H'mida-Ben ...
Lactose intolerance Fructose malabsorption Galactosemia Glycogen storage disease Inborn errors of carbohydrate metabolism ... and other lipids are commonly used for long-term energy storage. The hydrophobic character of lipids makes them a much more ... Biology portal Carbohydrate+metabolism at the U.S. National Library of Medicine Medical Subject Headings (MeSH) BBC - GCSE ... Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and ...
"Sources of propionate in inborn errors of propionate metabolism". Metabolism. 39 (11): 1133-1137. doi:10.1016/0026-0495(90) ... in the regulation of energy metabolism". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1864 (11 ... and possibly one of the most common inborn errors of metabolism. Due to being infrequently diagnosed, it most often goes ... Amino acid metabolism disorders, Rare diseases, Vitamin, coenzyme, and cofactor metabolism disorders). ...
... and other inborn errors of carbohydrate metabolism that affect muscle-defect in sugar (carbohydrate) metabolism. The deficiency ... carbohydrate metabolism, lipid metabolism [including ketosis], protein metabolism [including the purine nucleotide cycle], ... Inborn errors of carbohydrate metabolism Fatty acid metabolism disorder (fatty acid oxidation disorder, FAOD) Mitochondrial ... Metabolic myopathies are generally caused by an inherited genetic mutation, an inborn error of metabolism. (In livestock, an ...
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography- ... it being largely free from interfering proteins or lipids. Although the human urine metabolome is a subset of the human serum ... It can detect as many as 110 inborn errors of metabolism ("IEMs", or metabolic disorders) from a urine specimen. Cordlife owns ... Inborn errors of metabolism, Epidemiology, Rare diseases). ... CS1 errors: missing periodical, All articles with bare URLs for ...
Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... May 2005). "A comprehensive classification system for lipids". Journal of Lipid Research. 46 (5): 839-61. doi:10.1194/jlr. ... Metabolism Look up metabolism in Wiktionary, the free dictionary. Wikimedia Commons has media related to Metabolism. General ... The metabolism of cancer cells is also different from the metabolism of normal cells, and these differences can be used to find ...
Inborn errors of carbohydrate metabolism). ... a diet rich in proteins and carbohydrates but not lipids. ... Molecular Genetics and Metabolism. 84 (4): 305-312. doi:10.1016/j.ymgme.2004.09.007. ISSN 1096-7192. PMID 15781190 - via ...
2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... In Arabidopsis thaliana C5SD is located in both the endoplasmic reticulum and lipid particles. The common class of antifungal ... Silvestro Daniele; Andersen Tonni Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5- ... "The spatial organization of lipid synthesis in the yeast Saccharomyces cerevisiae derived from large scale green fluorescent ...
... inborn errors of metabolism caused by a dysfunction of one of the enzymes. The rate of incidence is estimated to be 1 in 5,000 ... Samie MA, Xu H (June 2014). "Lysosomal exocytosis and lipid storage disorders". Journal of Lipid Research. 55 (6): 995-1009. ... This results in abnormal signaling pathways, calcium homeostasis, lipid biosynthesis and degradation and intracellular ... Metachromatic leukodystrophy is another lysosomal storage disease that also affects sphingolipid metabolism. Dysfunctional ...
Inborn Disorders of Sphingolipid Metabolism. Elsevier. pp. 129-147. doi:10.1016/b978-1-4831-9855-2.50013-7. ISBN 978-1-4831- ... CS1 errors: periodical ignored, CS1 maint: DOI inactive as of August 2023, CS1 German-language sources (de), Articles with ... NAA-derived acetates are involved in the synthesis of fatty acids, which are subsequently incorporated into myelin lipids. It ... January 2009). "Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat". Neurochemical Research. 34 (1): 138-48 ...
... within patients with hyperammonemia and inborn errors in urea synthesis. Phenylacetylglutamine levels in the urine serves as a ... The metabolism and conjugation of phenylacetate with glutamine in the liver involves amino acid acetylation carried out by the ... Journal of Lipid Research. 58 (5): 955-961. doi:10.1194/jlr.M075317. PMC 5408614. PMID 28283530. Mokhtarani M, Diaz GA, Rhead W ... High levels of phenylacetylglutamine in the urine following metabolism by the gut microbiota may also indicate early renal ...
Vianey-Liaud C, Divry P, Gregersen N, Mathieu M (1987). "The inborn errors of mitochondrial fatty acid oxidation". Journal of ... Oxidative phosphorylation Electron transport chain Microbial metabolism Metabolism Ghisla S, Thorpe C (Feb 2004). "Acyl-CoA ... Turnbull DM, Bartlett K, Eyre JA, Gardner-Medwin D, Johnson MA, Fisher J, Watmough NJ (Oct 1988). "Lipid storage myopathy due ... Galloway JH, Cartwright IJ, Bennett MJ (Mar 1987). "Abnormal myocardial lipid composition in an infant with type II glutaric ...
... and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to ... Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation ... Articles with short description, Short description matches Wikidata, Fatty acids, Lipid metabolism disorders). ... Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in ...
"Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major ... Lipid Metabolism, Inborn Errors*Lipid Metabolism, Inborn Errors. *Lipid Metabolism, Inborn Error ... Lipid Metabolism, Inborn Errors [C18.452.584.562]. *Metabolism, Inborn Errors [C18.452.648]. *Lipid Metabolism, Inborn Errors [ ... "Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ...
Lipid Metabolism, Inborn Errors / diagnosis* * Male ...
Categories: Lipid Metabolism, Inborn Errors Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet. 2016 Feb 17 ... lipids, and fat-soluble vitamins that yield other complications. ...
Lipid Metabolism, Inborn Errors [C16.320.565.398]. *Lipidoses [C16.320.565.398.641]. *Sphingolipidoses [C16.320.565.398.641.803 ... Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... Genetic Diseases, Inborn [C16.320]. *Metabolism, Inborn Errors [C16.320.565]. *Brain Diseases, Metabolic, Inborn [C16.320. ... Lipid Metabolism, Inborn Errors [C18.452.648.398]. *Lipidoses [C18.452.648.398.641]. *Sphingolipidoses [C18.452.648.398.641.803 ...
Lipid Metabolism, Inborn Errors [C16.320.565.398]. *Lipidoses [C16.320.565.398.641]. *Sphingolipidoses [C16.320.565.398.641.803 ... Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central ... functional HN-F glycoprotein-containing complexes into newcastle disease virus is dependent on cholesterol and membrane lipid ...
Therapeutic agents directed against nucleotide metabolism. Examples of inborn errors of metabolism of nitrogen containing ... Biochemistry of lipids, membrane structure, anabolism and catabolism of lipids. Nitrogen metabolism, amino acid biosynthesis ... Adaptation of glucose, lipid and protein metabolism in response to short and long-term changes in the supply and balance of ... Glycogen metabolism, pentose-phosphate pathway, gluconeogenesis and photosynthesis. Practical training in study and analysis of ...
Two decades later, Sjögren-Larsson syndrome was shown to be an inborn error of lipid metabolism caused by deficient activity of ... Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjogren-Larsson syndrome. J Lipid Res. 2008 Feb ... 20] Tissue dysfunction is thought to be due to lipid storage in membranes. [16] FALDH is a component of the fatty alcohol:NAD ... 16] FALDH acts on fatty aldehydes derived from metabolism of fatty alcohol, [3] phytanic acid (a branched-chain fatty acid), [ ...
Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emerys Elements of ... Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM.. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah ... Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol ... NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ...
Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emerys Elements of ... Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of ...
Lipid Metabolism, Inborn Errors * Lipid Storage Disorder * METABOLISM * Plant Breeding * Precision Medicine ... ABHD5 encodes an acyltransferase required for lipid metabolism. In humans, variants in ABHD5 cause Chanarin-Dorfman syndrome, a ... neutral lipid storage disease with ichthyosis. Our data in dogs together with the knowledge on the effects of ABHD5 variants in ...
Lipid Metabolism, Inborn Errors 3 0 Cardiovascular Diseases 2 0 Chronic Disease 2 0 ... Metabolism, Inborn Errors 1 0 Schizophrenia 1 0 Note: The number of publications displayed in this table will differ from the ...
Lipid Metabolism, Inborn Errors. 1. + + 33. Hand Dermatoses. 1. + + 34. Food Hypersensitivity. 1. + + ...
Urea Cycle Disorders, Inborn (5) * Lipid Metabolism, Inborn Errors (4) * Phenylbutyrates (3) ... Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the ...
Genetic Diseases, Inborn [C16.320]. *Metabolism, Inborn Errors [C16.320.565]. *Lipid Metabolism, Inborn Errors [C16.320.565.398 ... Metabolism, Inborn Errors [C18.452.648]. *Lipid Metabolism, Inborn Errors [C18.452.648.398]. *Hypolipoproteinemias [C18.452. ...
Genetic Diseases, Inborn [C16.320]. *Metabolism, Inborn Errors [C16.320.565]. *Lipid Metabolism, Inborn Errors [C16.320.565.398 ... Metabolism, Inborn Errors [C18.452.648]. *Lipid Metabolism, Inborn Errors [C18.452.648.398]. *Smith-Lemli-Opitz Syndrome [ ... An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
Lipid Metabolism, Inborn Errors C18.452.584.562. Lithotripsy, Laser E2.594.550. E4.416.550. Local Government I1.409.550 N3.540. ...
  • Numerous genetic disorders are caused by errors in fatty acid metabolism. (wikipedia.org)
  • These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types. (wikipedia.org)
  • A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. (umassmed.edu)
  • Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM). (globalgenes.org)
  • Classify works on calcium metabolism disorders in QU 260.5.C2 . (nih.gov)
  • Classify works on glucose metabolism disorders in QU 260.5.G6 . (nih.gov)
  • Classify works on inborn errors of metabolism disorders in QU 265 . (nih.gov)
  • Classify works on inborn errors of lipid metabolism disorders in QU 265.5.L5 . (nih.gov)
  • Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. (alliedacademies.org)
  • Overview of Purine and Pyrimidine Metabolism Disorders. (tempsite.ws)
  • There are several disorders of pyrimidine metabolism (see the table). (tempsite.ws)
  • Disorders of Pyrimidine Metabolism Disorder Defective Enzyme Comments. (tempsite.ws)
  • Disorders that involve abnormalities of nucleotide metabolism range from relatively common diseases such as hyperuricemia and gout, in which there is increased production or impaired excretion of a metabolic end product of purine metabolism (uric acid), to rare enzyme deficiencies that affect purine and pyrimidine synthesis or degradation. (tempsite.ws)
  • Disorders in the metabolism of pyrimidine are mostly caused by enzyme defects (highlighted in pink, one disease is depicted in orange, since there appears to be no clinical difference between type 2 and 1 of orotic aciduria, therefore researchers believe that type 2 does not exist officially). (tempsite.ws)
  • Disorders of Purine and Pyrimidine Metabolism Rebecca S. Wappner PURINE AND PYRIMIDINE METABOLISM Purine and pyrimidine nucleotides are important constituents of RNA, DNA, nucleotide sugars, and other high-energy compounds and of cofactors such as adenosine triphosphate and nicotinamide-adenine dinucleotide. (tempsite.ws)
  • Background: Clinical presentation and disease severity in disorders of purine and pyrimidine metabolism vary considerably. (tempsite.ws)
  • Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. (ox.ac.uk)
  • Підхід до пацієнта з підозрою на спадкове порушення обміну речовин Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
  • A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis intellectual deficit and spasticity. (globalgenes.org)
  • An autosomal recessive disorder of CHOLESTEROL metabolism. (rush.edu)
  • Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. (nih.gov)
  • Sjögren-Larsson syndrome (SLS, OMIM 270200) is an inborn error of fatty alcohol oxidation with an autosomal recessive mode of inheritance. (ajnr.org)
  • Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. (harvard.edu)
  • Nevertheless, it has been shown that in nucleated cells, P5′N‐1 deficiency results in abnormal pyrimidine nucleotide metabolism (Hopkinson et al, 1990). (tempsite.ws)
  • Human diseases that involve abnormalities in purine metabolism include gout, Lesch-Nyhan syndrome, adenosine deaminase deficiency, and purine nucleoside phosphorylase deficiency. (tempsite.ws)
  • Sjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. (ajnr.org)
  • an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds. (msdmanuals.com)
  • In humans, variants in ABHD5 cause Chanarin-Dorfman syndrome, a neutral lipid storage disease with ichthyosis. (tamu.edu)
  • It is important to recognize that co-morbid conditions that often concomitantly exist with the disorder can further alter the lipid panel. (mdwiki.org)
  • Therapeutic agents directed against nucleotide metabolism. (up.ac.za)
  • 1) Lesch-Nyhan syndrome (pages 6-7) The Lesch-Nyhan syndrome is a sex linked defect of the Hypoxanthine, guanine, phosphoribosyl transferase (HGPRT) gene … Nucleotide Metabolism is an important issue in medical studies and therefore you can learn in this biochemistry article everything about purine & pyrimidines. (tempsite.ws)
  • NUCLEOTIDE METABOLISM Mark Rush Nucleotides serve various metabolic functions. (tempsite.ws)
  • Genetic defects involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into the vital physiological functions of these molecules in addition to nucleic acid synthesis. (tempsite.ws)
  • The changes are confined to cerebral white matter and suggest an accumulation of lipids, periventricular gliosis, delayed myelination, and a mild permanent myelin deficit. (ajnr.org)
  • Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al. (nih.gov)
  • This work is leading to new approaches to early diagnosis and risk assessment, and to the development of new lipid modulating therapies for chronic disease. (centenary.org.au)
  • The test menu is different for children, too, particularly with regard to the diagnosis of inborn errors of metabolism and follow-up of newborn screening. (thepathologist.com)
  • Defects in metabolism of lipids. (medlineplus.gov)
  • Inborn errors of metabolism form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, cofactors etc. in metabolic pathways [ 1 ]. (alliedacademies.org)
  • V. Disease states associated with defects in purine metabolism. (tempsite.ws)
  • The inherited defects involving pyrimidine metabolism lead to nervous system, hematologic and mitochondrial disease. (tempsite.ws)
  • These findings illustrate the value of integrative biology to investigate the genetics and lipid metabolism in the aetiology of coronary artery disease and Alzheimer's disease, with implications for other complex diseases. (centenary.org.au)
  • Shot- gun lipidomics approach displays unique changes in lipids biosynthesis in centenarians, with 41 differently abundant lipid species with respect to elderly subjects. (aging-us.com)
  • We integrated lipidomics and genomics to unravel the genetic architecture of lipid metabolism andidentify genetic variants associated with lipid species that are putatively in the mechanistic pathway to coronary artery disease. (centenary.org.au)
  • Two decades later, Sjögren-Larsson syndrome was shown to be an inborn error of lipid metabolism caused by deficient activity of fatty alcohol:NAD oxidoreductase. (medscape.com)
  • Therefore, patients with Sjögren-Larsson syndrome have deficient activity of FALDH and fatty alcohol:NAD oxidoreductase, which results in defective metabolism of both fatty aldehyde and fatty alcohol. (medscape.com)
  • Nitrogen metabolism, amino acid biosynthesis and catabolism. (up.ac.za)
  • G. Hoffmann, K. M. Gibson, I. K. Brandt, P. I. Bader, R. S. Wappner and L. Sweetman, "Mevalonic Aciduria-An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis," New England Journal of Medicine, Vol. 314, No. 25. (scirp.org)
  • Our data show that lxr is an important component of the regulatory network governing the lipid homeostasis during zebrafish development, which in turn may support a role of lxr for normal development of the central nervous sytem, including the retina. (scirp.org)
  • L. Wang, G. U. Schuster, K. Hultenby, Q. Zhang, S. Andersson and J. A. Gustafsson, "Liver X Receptors in the Central Nervous System: From Lipid Homeostasis to Neuronal Degeneration," Proceedings of the National Acadamy of Sciences of the USA, 15 October 2002, pp. 13878-13883. (scirp.org)
  • Incorporation of functional HN-F glycoprotein-containing complexes into newcastle disease virus is dependent on cholesterol and membrane lipid raft integrity. (umassmed.edu)
  • Considering the particular actions of these metabolites, these data are suggestive of a better counteractive antioxidant capacity and a well-developed membrane lipid remodelling process in the healthy aging phenotype. (aging-us.com)
  • Biochemistry of lipids, membrane structure, anabolism and catabolism of lipids. (up.ac.za)
  • Background Inborn errors of metabolism (IEMs) have already been anecdotally reported in the literature as presenting with top features of cerebral palsy (CP) or misdiagnosed as atypical CP. (healthcarecoremeasures.com)
  • Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. (mountsinai.org)
  • Genome-wide association studies (GWAS) of lipid species can provide novel insights into human physiology, inborn errors of metabolism andmechanisms for complex traits and diseases. (centenary.org.au)
  • His research has a focus on the dysregulation of lipid metabolism associated with metabolic diseases including obesity, diabetes, cardiovascular and Alzheimer's disease, and its relationship to the pathogenesis of these disease states. (centenary.org.au)
  • Given this, functional annotation of ABHD enzymes holds clear promise for drug discovery targeting diseases of altered lipid metabolism and lipid signaling. (lacbiosafety.org)
  • Activation of Liver X Receptor Improves Glucose Tolerance through Coordinate Regulation of Glucose Metabolism in Liver and Adipose Tissue," Proceedings of the National Acadamy of Sciences of the USA, 29 April 2003, pp. 5419-5424. (scirp.org)
  • Amino acids also contribute to cellular energy metabolism by providing a carbon source for entry into the citric acid cycle (tricarboxylic acid cycle), especially when a primary source of energy, such as glucose, is scarce, or when cells undergo metabolic stress. (wikipedia.org)
  • ABHD5 encodes an acyltransferase required for lipid metabolism. (tamu.edu)
  • ABHD5, also known as CGI-58, has been analyzed quite extensively due to its important role in triacylglycerol (TAG) metabolism, lipid signaling, and genetic association with the human disease YM-90709 Chanarin-Dorfman Syndrome (CDS) (Lefevre et al. (lacbiosafety.org)
  • Classify works on inborn errors of amino acid metabolism in QU 265.5.A5 . (nih.gov)
  • 2010). However, the physiological substrates and products for these lipid metabolizing enzymes and their broader role in metabolic pathways remain largely uncharacterized. (lacbiosafety.org)
  • Enzymes are crucial to metabolism because they allow organisms to drive desirable reactions that require energy and will not occur by themselves, by coupling them to spontaneous reactions that release energy. (wikipedia.org)
  • Many proteins are enzymes that catalyze the chemical reactions in metabolism. (wikipedia.org)
  • Purine metabolism refers to the metabolic pathways to synthesize and break down purines that are present in many organisms. (tempsite.ws)
  • The chemical reactions of metabolism are organized into metabolic pathways, in which one chemical is transformed through a series of steps into another chemical, each step being facilitated by a specific enzyme. (wikipedia.org)
  • A striking feature of metabolism is the similarity of the basic metabolic pathways among vastly different species. (wikipedia.org)
  • Although biopsy is unnecessary, Gaucher cells-lipid-laden tissue macrophages in the liver, spleen, lymph nodes, bone marrow, or brain that have a wrinkled tissue-paper appearance-are diagnostic. (msdmanuals.com)
  • The liver X-receptors (LXRs) act as cholesterol sensors and participate in the regulation of lipid and cholesterol metabolism. (scirp.org)
  • The expression of genes involved in lipid and cholesterol metabolism was also changed in the lxr morphants. (scirp.org)
  • This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. (mountsinai.org)
  • Onco-Hepatology (topics covered: organoids and animal models for the study of liver tumors,lipid metabolism and cancer immunotherapy, biomarkers for cholangiocarcinoma, therapeuticapproach to hepatocellular carcinoma, basics of cholangiocarcinoma, molecular landscapeand therapeutic strategies in cholangiocarcinoma, molecular basis for personalized therapy inGEP-NET). (sied.it)
  • Liver transplantation (topics covered: HBV prophylaxis in LT: time for a change, ACLF andLiver Transplantation, gene therapy and liver transplantation for inborn errors of metabolism,role of histology in LT, novel therapies for pre and post-LT, coronary artery disease and LT. (sied.it)
  • [ 14 ] Accumulation of fatty alcohol and related lipid products disrupts formation of the intercellular membranes in the stratum corneum, which is critical for epidermal water barrier. (medscape.com)
  • The accumulation of fatty alcohols, the modification of macromolecules by fatty aldehydes, and the presence of high concentrations of biologically active lipids have been postulated as the underlying pathophysiologic mechanisms that give rise to the clinical features ( 6 - 13 ). (ajnr.org)
  • Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). (mountsinai.org)
  • Most of the structures that make up animals, plants and microbes are made from four basic classes of molecules: amino acids, carbohydrates, nucleic acid and lipids (often called fats). (wikipedia.org)
  • Total ATP yield from the complete catabolism of lipids. (up.ac.za)
  • Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
  • Morpholino knock down of lxr resulted in an overall impaired lipid deposition as determined by oil red O staining particularly in the head and around the eyes, and to significantly elevated levels of both total and free cholesterol in the yolk of lxr morphant embryos. (scirp.org)
  • 2004), and conserved structural motifs shared by these proteins predict common functions in lipid metabolism and transmission transduction (Lefevre et al. (lacbiosafety.org)
  • 2010). Most recently, studies in cell and animal models have revealed important functions for ABHD proteins in glycerophospholipid metabolism, lipid transmission transduction, and metabolic disease (Long et al. (lacbiosafety.org)
  • or anabolic - the building up (synthesis) of compounds (such as proteins, carbohydrates, lipids, and nucleic acids). (wikipedia.org)
  • Beyond the classic understanding of single-gene mutation leading to disease, hypertriglyceridemia is also linked to several different genetic loci permitting additional aberrant changes to other lipid levels in the body. (mdwiki.org)
  • Examples of inborn errors of metabolism of nitrogen containing compounds. (up.ac.za)
  • Professor Peter Meikle is Head of the Systems Biology Domain, Co-Lead of the Obesity and Lipids Program and Head of the Metabolomics Laboratory at the Baker Heart and Diabetes Institute. (centenary.org.au)
  • Specifically, NMR metabonomics profiling of serum revealed that centenarians are characterized by a metabolic phenotype distinct from that of elderly subjects, in particular regarding amino acids and lipid species. (aging-us.com)
  • Lipids comprise thousands of individual species, spanning many classes and subclasses and are integral to cellular signalling, metabolism and function. (centenary.org.au)
  • We identified 737 independent loci associations with these lipid species (509 novel). (centenary.org.au)
  • Using the same data, we examined the associations of plasma lipid species with Alzheimer's disease and APOE genotypes to demonstrate that lipid species partially mediate the Alzheimer's disease risk resulting from inherited APOE genotypes. (centenary.org.au)
  • 2009). Given ABHD5's clear role in nutrient metabolism and lipid transmission transduction, we aimed to test whether the closely related enzyme ABHD6 might play a similar role in lipid signaling and metabolic disease. (lacbiosafety.org)
  • Associations between independent lipid-loci with coronary atherosclerosis were assessed in 456,000 individuals from the UK Biobank. (centenary.org.au)
  • 1×10-3), 43 loci were associated with at least one lipid endophenotype. (centenary.org.au)
  • LPL plays a role in the metabolism of triglycerides within VLDL molecules. (mdwiki.org)
  • Lipids are usually defined as hydrophobic or amphipathic biological molecules but will dissolve in organic solvents such as ethanol, benzene or chloroform. (wikipedia.org)
  • [ 12 ] Tissue dysfunction is thought to be due to lipid storage in membranes. (medscape.com)
  • Spectrum of common and rare small molecule inborn errors of metabolism diagnosed in a tertiary care centre. (alliedacademies.org)
  • As a result, an affected individual will have an excessive number of VLDL and triglycerides on a lipid profile. (mdwiki.org)

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