Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
An enzyme that catalyzes the conversion of N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine and water to N-acetyl-beta-D-glucosaminylamine and L-aspartate. It acts only on asparagine-oligosaccharides containing one amino acid, i.e. the ASPARAGINE has free alpha-amino and alpha-carboxyl groups. (From Enzyme Nomenclature, 1992)
An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.8.
An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
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.
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.
Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.
Glucuronidase is an enzyme (specifically, a glycosidase) that catalyzes the hydrolysis of glucuronic acid from various substrates, playing crucial roles in metabolic processes like detoxification and biotransformation within organisms.
An arylsulfatase that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. A deficiency of this enzyme is responsible for the inherited lysosomal disease, Maroteaux-Lamy syndrome (MUCOPOLYSACCHARIDOSIS VI). EC 3.1.6.12.
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms that depend upon the type of gene mutation.
Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
The mallow family of the order Malvales, subclass Dilleniidae, class Magnoliopsida. Members include GOSSYPIUM, okra (ABELMOSCHUS), HIBISCUS, and CACAO. The common names of hollyhock and mallow are used for several genera of Malvaceae.
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.
An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS.
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
Peptide hydrolases that contain at the active site a SERINE residue involved in catalysis.
An exocellulase with specificity for a variety of beta-D-glycoside substrates. It catalyzes the hydrolysis of terminal non-reducing residues in beta-D-glucosides with release of GLUCOSE.
An enzyme from the sulfuric ester hydrolase class that breaks down one of the products of the chondroitin lyase II reaction. EC 3.1.6.9.
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 genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
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 entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed)
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
An intermediate in the biosynthesis of cerebrosides. It is formed by reaction of sphingosine with UDP-galactose and then itself reacts with fatty acid-Coenzyme A to form the cerebroside.
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Phosphoric acid esters of mannose.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.
Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or N-acetylgalactosamine.
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
A broad group of eukaryotic six-transmembrane cation channels that are classified by sequence homology because their functional involvement with SENSATION is varied. They have only weak voltage sensitivity and ion selectivity. They are named after a DROSOPHILA mutant that displayed transient receptor potentials in response to light. A 25-amino-acid motif containing a TRP box (EWKFAR) just C-terminal to S6 is found in TRPC, TRPV and TRPM subgroups. ANKYRIN repeats are found in TRPC, TRPV & TRPN subgroups. Some are functionally associated with TYROSINE KINASE or TYPE C PHOSPHOLIPASES.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
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.
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.
Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE.
A subclass of exopeptidases that includes enzymes which cleave either two or three AMINO ACIDS from the end of a peptide chain.
Lipids containing at least one monosaccharide residue and either a sphingoid or a ceramide (CERAMIDES). They are subdivided into NEUTRAL GLYCOSPHINGOLIPIDS comprising monoglycosyl- and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides; and ACIDIC GLYCOSPHINGOLIPIDS which comprises sialosylglycosylsphingolipids (GANGLIOSIDES); SULFOGLYCOSPHINGOLIPIDS (formerly known as sulfatides), glycuronoglycosphingolipids, and phospho- and phosphonoglycosphingolipids. (From IUPAC's webpage)
An enzyme that catalyzes the conversion of D-glucose 6-phosphate and water to D-glucose and orthophosphate. EC 3.1.3.9.
Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A subgroup of TRP cation channels named after melastatin protein. They have the TRP domain but lack ANKYRIN repeats. Enzyme domains in the C-terminus leads to them being called chanzymes.
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.
Mice bearing mutant genes which are phenotypically expressed in the animals.
The segregation and degradation of damaged or unwanted cytoplasmic constituents by autophagic vacuoles (cytolysosomes) composed of LYSOSOMES containing cellular components in the process of digestion; it plays an important role in BIOLOGICAL METAMORPHOSIS of amphibians, in the removal of bone by osteoclasts, and in the degradation of normal cell components in nutritional deficiency states.
An enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide (N-acylsphingosine) plus choline phosphate. A defect in this enzyme leads to NIEMANN-PICK DISEASE. EC 3.1.4.12.
A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue.
Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used.
Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
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.
1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Any member of the class of enzymes that catalyze the cleavage of the substrate and the addition of water to the resulting molecules, e.g., ESTERASES, glycosidases (GLYCOSIDE HYDROLASES), lipases, NUCLEOTIDASES, peptidases (PEPTIDE HYDROLASES), and phosphatases (PHOSPHORIC MONOESTER HYDROLASES). EC 3.
A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
The process of keeping pharmaceutical products in an appropriate location.
An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.
An alpha-glucosidase inhibitor with antiviral action. Derivatives of deoxynojirimycin may have anti-HIV activity.
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.
The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors.
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
Sugars in which the OXYGEN is replaced by a NITROGEN atom. This substitution prevents normal METABOLISM resulting in inhibition of GLYCOSIDASES and GLYCOSYLTRANSFERASES.
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.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides. The enzyme plays a role in the lysosomal degradation of the N-glycosylprotein glycans. Defects in the lysosomal form of the enzyme in humans result in a buildup of mannoside intermediate metabolites and the disease BETA-MANNOSIDOSIS.
A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.
The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Enlargement of the liver.
An encapsulated lymphatic organ through which venous blood filters.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
Glycogen is a multibranched polysaccharide of glucose serving as the primary form of energy storage in animals, fungi, and bacteria, stored mainly in liver and muscle tissues. (Two sentences combined as per your request)
Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.
Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. (From Kandel, Schwartz, and Jessel, Principles of Neural Science, 3d ed, p766)
Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges.
A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.
Proteins prepared by recombinant DNA technology.
A carboxypeptidase that catalyzes the release of a C-terminal amino acid with a broad specificity. It also plays a role in the LYSOSOMES by protecting BETA-GALACTOSIDASE and NEURAMINIDASE from degradation. It was formerly classified as EC 3.4.12.1 and EC 3.4.21.13.
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
An enzyme that catalyzes the hydrolysis of terminal 1,4-linked alpha-D-glucose residues successively from non-reducing ends of polysaccharide chains with the release of beta-glucose. It is also able to hydrolyze 1,6-alpha-glucosidic bonds when the next bond in sequence is 1,4.
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Established cell cultures that have the potential to propagate indefinitely.
Keeping food for later consumption.
Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.
The ENTERIC NERVOUS SYSTEM; PARASYMPATHETIC NERVOUS SYSTEM; and SYMPATHETIC NERVOUS SYSTEM taken together. Generally speaking, the autonomic nervous system regulates the internal environment during both peaceful activity and physical or emotional stress. Autonomic activity is controlled and integrated by the CENTRAL NERVOUS SYSTEM, especially the HYPOTHALAMUS and the SOLITARY NUCLEUS, which receive information relayed from VISCERAL AFFERENTS.
Sulfatases are a group of enzymes that catalyze the hydrolysis of sulfate ester bonds in various substrates, playing crucial roles in the metabolism and homeostasis of carbohydrates, proteoglycans, neurotransmitters, and steroid hormones within the body.
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
Membrane transporters that co-transport two or more dissimilar molecules in the opposite direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.
The thoracolumbar division of the autonomic nervous system. Sympathetic preganglionic fibers originate in neurons of the intermediolateral column of the spinal cord and project to the paravertebral and prevertebral ganglia, which in turn project to target organs. The sympathetic nervous system mediates the body's response to stressful situations, i.e., the fight or flight reactions. It often acts reciprocally to the parasympathetic system.
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
Characteristic properties and processes of the NERVOUS SYSTEM as a whole or with reference to the peripheral or the CENTRAL NERVOUS SYSTEM.
A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.
A benign epithelial tumor of the LIVER.
A highly branched glucan in starch.
A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. (1/16)

The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived organelles in a variety of cell types, but neurons in the central nervous system appear to be selectively affected and undergo progressive death. In this report we show that a novel form of NCL, congenital ovine NCL, is caused by a deficiency in the lysosomal aspartyl proteinase cathepsin D. A single nucleotide mutation in the cathepsin D gene results in conversion of an active site aspartate to asparagine, leading to production of an enzymatically inactive but stable protein. This results in severe cerebrocortical atrophy and early death, providing strong evidence for an important role of cathepsin D in neuronal development and/or homeostasis.  (+info)

Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. (2/16)

Cathepsin D-deficient (CD-/-) mice have been shown to manifest seizures and become blind near the terminal stage [approximately postnatal day (P) 26]. We therefore examined the morphological, immunocytochemical, and biochemical features of CNS tissues of these mice. By electron microscopy, autophagosome/autolysosome-like bodies containing part of the cytoplasm, granular osmiophilic deposits, and fingerprint profiles were demonstrated in the neuronal perikarya of CD-/- mouse brains after P20. Autophagosomes and granular osmiophilic deposits were detected in neurons at P0 but were few in number, whereas they increased in the neuronal perikarya within days after birth. Some large-sized neurons having autophagosome/autolysosome-like bodies in the perikarya appeared in the CNS tissues, especially in the thalamic region and the cerebral cortex, at P17. These lysosomal bodies occupied the perikarya of almost all neurons in CD-/- mouse brains obtained from P23 until the terminal stage. Because these neurons exhibited autofluorescence, it was considered that ceroid lipofuscin may accumulate in lysosomal structures of CD-/- neurons. Subunit c of mitochondrial ATP synthase was found to accumulate in the lysosomes of neurons, although the activity of tripeptidyl peptidase-I significantly increased in the brain. Moreover, neurons near the terminal stage were often shrunken and possessed irregular nuclei through which small dense chromatin masses were scattered. These results suggest that the CNS neurons in CD-/- mice show a new form of lysosomal accumulation disease with a phenotype resembling neuronal ceroid lipofuscinosis.  (+info)

Spinsters, synaptic defects, and amaurotic idiocy. (3/16)

In this issue of Neuron, Sweeney and Davis present a beautiful characterization of Drosophila mutants in a gene named spinster. The results indicate a function of the endocytic pathway in regulating transforming growth factor-beta (TGF-beta) signaling at the Drosophila motor synapse. This study provides important new information at an intersection of several disciplines, including membrane traffic, lipid organization, synaptic signaling, and neurodegenerative lysosomal storage disease.  (+info)

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. (4/16)

The palmitoyl protein thioesterase-2 (PPT2) gene encodes a lysosomal thioesterase homologous to PPT1, which is the enzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis. In this article, we report that PPT2 deficiency in mice causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral manifestations. All PPT2-deficient mice displayed a neurodegenerative phenotype with spasticity and ataxia by 15 mo. The bone marrow was infiltrated by brightly autofluorescent macrophages and multinucleated giant cells, but interestingly, the macrophages did not have the typical appearance of foam cells commonly associated with other lysosomal storage diseases. Marked splenomegaly caused by extramedullary hematopoiesis was observed. The pancreas was grossly orange to brown as a result of massive storage of lipofuscin pigments in the exocrine (but not islet) cells. Electron microscopy showed that the storage material consisted of multilamellar membrane profiles ("zebra bodies"). In summary, PPT2 deficiency in mice manifests as a neurodegenerative disorder with visceral features. Although PPT2 deficiency has not been described in humans, manifestations would be predicted to include neurodegeneration with bone marrow histiocytosis, visceromegaly, brown pancreas, and linkage to chromosome 6p21.3 in affected families.  (+info)

Neuronal storage disease in a group of captive Humboldt penguins (Spheniscus humboldti). (5/16)

A neuronal storage disease affecting 5 captive Humboldt penguins is described. One bird died after 3 days of lethargy and anorexia. The 4 remaining birds died after a slowly progressing course of disease with signs that included lethargy, weakness, and neurologic dysfunction. Neurologic signs included dysphagia and ataxia. Gross lesions in the first animal to die consisted of hepatosplenomegaly indicative of avian malaria, which was confirmed histologically. The 4 remaining animals were mildly to moderately emaciated. Moderate to marked vacuolation of the neuronal perikarya was observed in Purkinje cells, neurons of the brainstem nuclei, and motorneurons of the spinal cord in all birds. By electron microscopy the vacuoles represented multilayered concentric lamellar structures. These findings were indicative of sphingolipidosis. All animals had been prophylactically treated for avian malaria, aspergillosis, and possible bacterial infections with chloroquine, itraconazole, and enrofloxacin. Circumstantial evidence implicates chloroquine therapy as the possible cause of the storage disease.  (+info)

Spontaneous and experimental glycoprotein storage disease of goats induced by Ipomoea carnea subsp fistulosa (Convolvulaceae). (6/16)

Spontaneous and experimental poisoning with the swainsonine-containing and calystegine-containing plant Ipomoea carnea subsp fistulosa is described. Three of 8 goats presenting with emaciation, weakness, symmetrical ataxia, posterior paresis, proprioceptive deficits, abnormal posture, abnormal postural reaction, and muscle hypertonia were necropsied. I fistulosa was suspected to be the cause of the neurologic disease in all cases. An experiment was conducted to confirm the diagnosis using 12 goats and diets containing 3 different concentrations of the plant. All goats fed I fistulosa developed neurological signs that were similar to those observed in the spontaneous intoxication. Muscle atrophy and pallor were the only macroscopic changes observed in spontaneous and in experimental intoxication. Histological lesions of spontaneous and experimental animals were similar. The most prominent lesion was cytoplasmic vacuolation in neurons of the central and the autonomous nervous system, pancreatic acinar cells, hepatocytes, Kupffer cells, follicular epithelial cells of the thyroid gland, and macrophages of the lymphatic tissues. Neuronal necrosis, axonal spheroids formation, and astrogliosis were additionally observed in the brain. Ultrastructurally, the cytoplasmic vacuoles consisted of distended lysosomes surrounded by a single-layered membrane. Nonreduced end-rests or sequence of alpha-Man, alpha-Glc, beta(1-4)-GlcNAc, and NeuNAc on lysosomal membrane were revealed by lectin histochemistry. Samples of plants used in the experimental trial contained swainsonine and calystegine and their intermediary derivate. We conclude that I fistulosa induces a glycoprotein storage disease primarily based on the inhibition of the lysosomal alpha-mannosidase by the alkaloid swainsonine.  (+info)

Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies. (7/16)

Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies. However, the mechanism through which these mutations influence the pathogenesis of dementia with Lewy bodies is unclear. To investigate the role of the beta-syn mutations in neurodegeneration, each mutant was stably transfected into B103 neuroblastoma cells. Cells overexpressing mutated beta-syn had eosinophilic cytoplasmic inclusion bodies immunopositive for mutant beta-syn, and electron microscopy revealed that these cells were abundant in various cytoplasmic membranous inclusions resembling the histopathology of lysosomal storage disease. Consistent with these findings, the inclusion bodies were immunopositive for lysosomal markers, including cathepsin B, LAMP-2, GM2 ganglioside, and ATP13A2, which has recently been linked to PARK9. Notably, formation of these lysosomal inclusions was greatly stimulated by co-expression of alpha-syn, was dependent on the phosphorylation of alpha-syn at Ser-129, and was more efficient with the A53T familial mutant of alpha-syn compared with wild type. Furthermore, the inclusion formation in cells overexpressing mutant beta-syn and transfected with alpha-syn was significantly suppressed by treatment with autophagy-lysosomal inhibitors, which were associated with impaired clearance of syn proteins and enhanced apoptosis, indicating that formation of lysosomal inclusions might be protective. Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology. We suggest that these missense mutations of beta-syn might play a causative role in stimulating neurodegeneration.  (+info)

A block of autophagy in lysosomal storage disorders. (8/16)

Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell death are poorly understood. Here we show that lysosomal storage impairs autophagic delivery of bulk cytosolic contents to lysosomes. By studying the mouse models of two LSDs associated with severe neurodegeneration, multiple sulfatase deficiency (MSD) and mucopolysaccharidosis type IIIA (MPSIIIA), we observed an accumulation of autophagosomes resulting from defective autophagosome-lysosome fusion. An impairment of the autophagic pathway was demonstrated by the inefficient degradation of exogenous aggregate-prone proteins (i.e. expanded huntingtin and mutated alpha-synuclein) in cells from LSD mice. This impairment resulted in massive accumulation of polyubiquitinated proteins and of dysfunctional mitochondria which are the putative mediators of cell death. These data identify LSDs as 'autophagy disorders' and suggest the presence of common mechanisms in the pathogenesis of these and other neurodegenerative diseases.  (+info)

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.

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. These diseases affect many different organ systems, including the nervous system. Lysosomes are membrane-bound organelles found inside cells that break down and recycle various types of cellular waste materials through the action of enzymes. In LSDs, a genetic mutation leads to a deficiency or complete lack of a specific lysosomal enzyme, resulting in the accumulation of undigested substrates within the lysosomes. This accumulation can cause progressive damage to cells and tissues throughout the body, including those in the nervous system.

There are more than 50 different types of LSDs, some of which primarily affect the nervous system:

1. Tay-Sachs disease: A severe neurological disorder caused by a deficiency of the enzyme hexosaminidase A (HEXA). The accumulation of ganglioside GM2 in neurons leads to progressive neurodegeneration, resulting in motor and cognitive decline, blindness, and early death.
2. Sandhoff disease: Similar to Tay-Sachs disease but caused by a deficiency in both HEXA and hexosaminidase B (HEXB) enzymes. This disorder affects multiple organ systems, including the nervous system, with symptoms similar to Tay-Sachs disease but often more severe and rapid progression.
3. GM1 gangliosidosis: A condition caused by a deficiency of the enzyme β-galactosidase (GLB1), leading to the accumulation of GM1 ganglioside in neurons. Symptoms include developmental delay, motor and cognitive decline, seizures, and progressive neurological deterioration.
4. Gaucher disease: A disorder caused by a deficiency of the enzyme glucocerebrosidase (GBA), resulting in the accumulation of glucocerebroside in various tissues, including the nervous system. There are three main types of Gaucher disease, with type 2 and 3 having neurological involvement.
5. Niemann-Pick disease types A and B: These disorders are caused by a deficiency of the enzyme acid sphingomyelinase (SMPD1), leading to the accumulation of sphingomyelin in various tissues, including the nervous system. Type A primarily affects the nervous system, while type B mainly involves visceral organs.
6. Fabry disease: An X-linked disorder caused by a deficiency of the enzyme α-galactosidase A (GLA), resulting in the accumulation of globotriaosylceramide (Gb3) in various tissues, including the nervous system. Symptoms include pain, gastrointestinal issues, skin lesions, and progressive renal, cardiac, and cerebrovascular complications.
7. Metachromatic leukodystrophy: A disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA), leading to the accumulation of sulfatides in the white matter of the brain. Symptoms include motor and cognitive decline, seizures, and progressive neurological deterioration.
8. Krabbe disease: An autosomal recessive disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), resulting in the accumulation of psychosine in the nervous system. Symptoms include motor and cognitive decline, seizures, and progressive neurological deterioration.
9. Mucopolysaccharidoses: A group of disorders caused by deficiencies of various enzymes involved in the breakdown of glycosaminoglycans (GAGs), leading to their accumulation in tissues throughout the body, including the nervous system. Symptoms vary depending on the specific disorder and include skeletal abnormalities, cardiac complications, vision and hearing loss, and progressive neurological decline.
10. Neuronal ceroid lipofuscinoses: A group of neurodegenerative disorders caused by mutations in various genes involved in lysosomal function, leading to the accumulation of lipopigments in neurons and other cells. Symptoms include seizures, motor and cognitive decline, vision loss, and progressive neurological deterioration.
11. Peroxisomal biogenesis disorders: A group of disorders caused by mutations in genes involved in peroxisome biogenesis, leading to the accumulation of very long-chain fatty acids, phytanic acid, and pipecolic acid in tissues throughout the body, including the nervous system. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
12. Congenital disorders of glycosylation: A group of disorders caused by mutations in genes involved in N-glycosylation, leading to abnormal protein folding, trafficking, and function. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
13. Leukodystrophies: A group of disorders characterized by abnormalities in the white matter of the brain due to defects in myelin formation or maintenance. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
14. Mitochondrial disorders: A group of disorders caused by mutations in genes involved in mitochondrial function, leading to energy production deficits and oxidative stress. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
15. Neurodegenerative disorders: A group of disorders characterized by progressive degeneration of the nervous system, leading to cognitive decline, motor dysfunction, and ultimately death. Examples include Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS).
16. Neurodevelopmental disorders: A group of disorders characterized by impairments in cognitive, social, and motor development, including autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), intellectual disability, and specific learning disorders.
17. Epilepsy: A group of disorders characterized by recurrent seizures due to abnormal electrical activity in the brain. Epilepsy can be caused by various genetic and environmental factors, including structural brain abnormalities, infections, trauma, and metabolic imbalances.
18. Neuroinflammatory disorders: A group of disorders characterized by inflammation of the nervous system, leading to damage and dysfunction. Examples include multiple sclerosis, neuromyelitis optica, and autoimmune encephalitis.
19. Infectious diseases of the nervous system: A group of disorders caused by infectious agents such as viruses, bacteria, fungi, or parasites that affect the nervous system. Examples include meningitis, encephalitis, and HIV-associated neurological disorders.
20. Neurotoxic disorders: A group of disorders caused by exposure to neurotoxic substances such as heavy metals, pesticides, solvents, or drugs that damage the nervous system. Examples include lead poisoning, organophosphate poisoning, and methanol toxicity.
21. Neurooncological disorders: A group of disorders characterized by tumors of the nervous system, including primary brain tumors, metastatic brain tumors, and spinal cord tumors.
22. Vascular disorders of the nervous system: A group of disorders caused by disruption of blood flow to the nervous system, leading to ischemia or hemorrhage. Examples include stroke, transient ischemic attack, and subarachnoid hemorrhage.
23. Degenerative disorders of the nervous system: A group of disorders characterized by progressive degeneration of nerve cells and their supporting structures, leading to functional impairment. Examples include Alzheimer's disease, Parkinson's disease, and Huntington's disease.
24. Neurodevelopmental disorders: A group of disorders that affect the development of the nervous system, leading to cognitive, behavioral, or motor impairments. Examples include autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability.
25. Epilepsy and seizure disorders: A group of disorders characterized by recurrent seizures, which are abnormal electrical discharges in the brain that can cause a variety of symptoms such as convulsions, altered consciousness, or sensory disturbances.
26. Neurogenetic disorders: A group of disorders caused by genetic mutations that affect the structure or function of the nervous system. Examples include fragile X syndrome, tuberous sclerosis complex, and neurofibromatosis type 1.
27. Neuromuscular

Alpha-mannosidosis is a rare inherited metabolic disorder caused by the deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugar molecules called mannose-rich oligosaccharides, which are found on the surface of many different types of cells in the body.

When the alpha-mannosidase enzyme is deficient or not working properly, these sugar molecules accumulate inside the lysosomes (the recycling centers of the cell) and cause damage to various tissues and organs, leading to a range of symptoms.

The severity of the disease can vary widely, depending on the amount of functional alpha-mannosidase enzyme activity present in an individual's cells. Three main types of alpha-mannosidosis have been described: mild, moderate, and severe. The severe form is usually diagnosed in infancy or early childhood and is characterized by developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, hearing loss, and recurrent respiratory infections.

The moderate form of the disease may not be diagnosed until later in childhood or even adulthood, and it is generally milder than the severe form. Symptoms can include mild to moderate intellectual disability, skeletal abnormalities, hearing loss, and speech difficulties. The mild form of alpha-mannosidosis may not cause any noticeable symptoms until much later in life, and some individuals with this form of the disease may never experience any significant health problems.

Currently, there is no cure for alpha-mannosidosis, and treatment is focused on managing the symptoms of the disease. Enzyme replacement therapy (ERT) has shown promise in treating some forms of the disorder, but it is not yet widely available. Bone marrow transplantation has also been used to treat alpha-mannosidosis, with varying degrees of success.

Mucopolysaccharidosis (MPS) VII, also known as Sly syndrome, is a rare genetic disorder caused by the deficiency of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), or mucopolysaccharides, in the body. When this enzyme is not present in sufficient amounts, GAGs accumulate in various tissues and organs, leading to progressive damage.

The symptoms of MPS VII can vary widely, but often include coarse facial features, short stature, skeletal abnormalities, hearing loss, heart problems, and intellectual disability. Some individuals with MPS VII may also have cloudy corneas, enlarged liver and spleen, and difficulty breathing due to airway obstruction. The severity of the condition can range from mild to severe, and life expectancy is often reduced in those with more severe symptoms.

MPS VII is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Treatment for MPS VII typically involves enzyme replacement therapy, which can help to slow down the progression of the disease and improve some symptoms. However, there is currently no cure for this condition.

Glycogen Storage Disease Type I (GSD I) is a rare inherited metabolic disorder caused by deficiency of the enzyme glucose-6-phosphatase, which is necessary for the liver to release glucose into the bloodstream. This leads to an accumulation of glycogen in the liver and abnormally low levels of glucose in the blood (hypoglycemia).

There are two main subtypes of GSD I: Type Ia and Type Ib. In Type Ia, there is a deficiency of both glucose-6-phosphatase enzyme activity in the liver, kidney, and intestine, leading to hepatomegaly (enlarged liver), hypoglycemia, lactic acidosis, hyperlipidemia, and growth retardation. Type Ib is characterized by a deficiency of glucose-6-phosphatase enzyme activity only in the neutrophils, leading to recurrent bacterial infections.

GSD I requires lifelong management with frequent feedings, high-carbohydrate diet, and avoidance of fasting to prevent hypoglycemia. In some cases, treatment with continuous cornstarch infusions or liver transplantation may be necessary.

Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.

Gaucher disease is an inherited metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a complex fatty substance called glucocerebroside, found in the cells of various tissues throughout the body. When the enzyme is not present in sufficient quantities or is entirely absent, glucocerebroside accumulates inside the lysosomes (cellular organelles responsible for waste material breakdown) of certain cell types, particularly within white blood cells called macrophages. This buildup of lipids leads to the formation of characteristic lipid-laden cells known as Gaucher cells.

There are three main types of Gaucher disease, classified based on the absence or presence and severity of neurological symptoms:

1. Type 1 (non-neuronopathic) - This is the most common form of Gaucher disease, accounting for approximately 95% of cases. It primarily affects the spleen, liver, and bone marrow but does not typically involve the central nervous system. Symptoms may include an enlarged spleen and/or liver, low red blood cell counts (anemia), low platelet counts (thrombocytopenia), bone pain and fractures, and fatigue.
2. Type 2 (acute neuronopathic) - This rare and severe form of Gaucher disease affects both visceral organs and the central nervous system. Symptoms usually appear within the first six months of life and progress rapidly, often leading to death before two years of age due to neurological complications.
3. Type 3 (subacute neuronopathic) - This form of Gaucher disease affects both visceral organs and the central nervous system but has a slower progression compared to type 2. Symptoms may include those seen in type 1, as well as neurological issues such as seizures, eye movement abnormalities, and cognitive decline.

Gaucher disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene (one from each parent) to develop the condition. Treatment options for Gaucher disease include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and chaperone therapy, depending on the type and severity of the disease.

Fucosidosis is a rare inherited metabolic disorder caused by the deficiency of the enzyme alpha-L-fucosidase. This enzyme is responsible for breaking down complex sugars called glycoproteins and glycolipids in the body. Without sufficient levels of this enzyme, these substances accumulate in various tissues and organs, leading to progressive cellular damage and impaired function.

The condition is characterized by a wide range of symptoms, including coarse facial features, developmental delays, intellectual disability, seizures, vision and hearing loss, cardiac problems, and skeletal abnormalities. There are two main types of fucosidosis, type 1 and type 2, which differ in the age of onset and severity of symptoms.

Fucosidosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. It is typically diagnosed through enzyme assays and genetic testing. Currently, there is no cure for fucosidosis, and treatment is focused on managing symptoms and improving quality of life.

Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders that affect the body's ability to break down and store glycogen, a complex carbohydrate that serves as the primary form of energy storage in the body. These diseases are caused by deficiencies or dysfunction in enzymes involved in the synthesis, degradation, or transport of glycogen within cells.

There are several types of GSDs, each with distinct clinical presentations and affected organs. The most common type is von Gierke disease (GSD I), which primarily affects the liver and kidneys. Other types include Pompe disease (GSD II), McArdle disease (GSD V), Cori disease (GSD III), Andersen disease (GSD IV), and others.

Symptoms of GSDs can vary widely depending on the specific type, but may include:

* Hypoglycemia (low blood sugar)
* Growth retardation
* Hepatomegaly (enlarged liver)
* Muscle weakness and cramping
* Cardiomyopathy (heart muscle disease)
* Respiratory distress
* Developmental delays

Treatment for GSDs typically involves dietary management, such as frequent feedings or a high-protein, low-carbohydrate diet. In some cases, enzyme replacement therapy may be used to manage symptoms. The prognosis for individuals with GSDs depends on the specific type and severity of the disorder.

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), also known as mucopolysaccharides, in the body.

When the enzyme is deficient, GAGs accumulate in various tissues and organs, leading to a range of symptoms that can affect different parts of the body, including the skeletal system, heart, respiratory system, eyes, and central nervous system. There are three subtypes of MPS I: Hurler syndrome (the most severe form), Hurler-Scheie syndrome (an intermediate form), and Scheie syndrome (the least severe form).

The symptoms and severity of MPS I can vary widely depending on the specific subtype, with Hurler syndrome typically causing more significant health problems and a shorter life expectancy than the other two forms. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and various supportive therapies to manage symptoms and improve quality of life.

Glycogen Storage Disease Type II, also known as Pompe Disease, is a genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a complex sugar that serves as energy storage, within lysosomes. When GAA is deficient, glycogen accumulates in various tissues, particularly in muscle cells, leading to their dysfunction and damage.

The severity of Pompe Disease can vary significantly, depending on the amount of functional enzyme activity remaining. The classic infantile-onset form presents within the first few months of life with severe muscle weakness, hypotonia, feeding difficulties, and respiratory insufficiency. This form is often fatal by 1-2 years of age if left untreated.

A later-onset form, which can present in childhood, adolescence, or adulthood, has a more variable clinical course. Affected individuals may experience progressive muscle weakness, respiratory insufficiency, and cardiomyopathy, although the severity and rate of progression are generally less pronounced than in the infantile-onset form.

Enzyme replacement therapy with recombinant human GAA is available for the treatment of Pompe Disease and has been shown to improve survival and motor function in affected individuals.

Aspartylglucosaminuria (AGU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme Aspartylglucosaminidase (AGA). This enzyme is responsible for breaking down complex sugars called glycoproteins in the body. When AGA is deficient, glycoproteins accumulate in various tissues and organs, leading to progressive damage.

The symptoms of AGU usually become apparent during early childhood, around 2-6 years of age. These may include developmental delays, intellectual disability, coarse facial features, recurrent respiratory infections, and skeletal abnormalities. Over time, individuals with AGU may experience worsening neurological symptoms, such as seizures, ataxia (loss of muscle coordination), and spasticity (stiff or rigid muscles).

AGU is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. If both parents are carriers of the AGU gene mutation, they have a 25% chance of having a child with the disease in each pregnancy.

Currently, there is no cure for AGU, and treatment is focused on managing symptoms and improving quality of life. Regular follow-up with a healthcare team experienced in treating metabolic disorders is essential to monitor disease progression and adjust treatment plans as needed.

Mucolipidoses are a group of inherited metabolic disorders characterized by the accumulation of complex carbohydrates (muco-) and fatty substances (lipids) in various tissues and cells (-oses). This is due to deficiency in enzymes that help break down these substances within lysosomes, which are organelles responsible for recycling and breaking down waste materials inside the cell.

There are four main types of mucolipidoses (I, II, III, and IV), each resulting from specific genetic mutations affecting different enzymes or proteins involved in the lysosomal degradation pathway. The symptoms, severity, and age of onset can vary widely among these types, ranging from mild to severe and including developmental delays, bone abnormalities, vision and hearing loss, heart problems, and coarse facial features.

Mucolipidoses are typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, mucolipidosis II is caused by X-linked inheritance, where a single copy of the mutated gene on the X chromosome is enough to cause the disorder.

Early diagnosis and management of mucolipidoses can help improve quality of life and slow disease progression. Treatment options include physical therapy, occupational therapy, speech therapy, medications for symptom management, and in some cases, enzyme replacement therapy or bone marrow transplantation.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in various tissues and organs due to deficiencies in enzymes involved in sphingolipid metabolism. Sphingolipids are a type of lipid molecule that play important roles in cell membranes, signal transduction, and cell recognition.

Examples of sphingolipidoses include Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Krabbe disease, among others. These disorders can affect various organs and systems in the body, including the brain, liver, spleen, bones, and nervous system, leading to a range of symptoms such as developmental delay, seizures, movement disorders, enlarged organs, and skin abnormalities.

Treatment for sphingolipidoses typically involves managing symptoms and addressing complications, although some forms of these disorders may be amenable to enzyme replacement therapy or stem cell transplantation.

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects the nervous system's white matter. It is caused by mutations in the arylsulfatase A (ARSA) gene, which leads to an accumulation of sulfatides in the brain and peripheral nerves. This accumulation results in progressive damage to the protective sheath (myelin) that covers nerve fibers, impairing the transmission of nerve impulses and leading to neurological symptoms.

The clinical presentation of MLD varies depending on the age of onset. The late-infantile form is the most common and typically appears between ages 1 and 2. Symptoms include developmental regression, motor difficulties, muscle weakness, and loss of vision and hearing. The juvenile form usually begins between ages 4 and 6, while the adult form can manifest anytime after age 16. These later-onset forms tend to have a slower progression but still result in significant neurological impairment over time.

Currently, there is no cure for MLD, and treatment focuses on managing symptoms and slowing disease progression. Bone marrow transplantation or stem cell transplantation may be beneficial if performed early in the course of the disease.

Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a genetic disorder caused by the deficiency of specific enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. This results in an accumulation of these substances in various tissues and organs, leading to progressive damage.

There are four main types of Mucopolysaccharidosis III (A, B, C, and D), each caused by a deficiency in one of the following enzymes: heparan N-sulfatase (type A), alpha-N-acetylglucosaminidase (type B), acetyl-CoAlpha-glucosaminide acetyltransferase (type C), or N-acetylglucosamine 6-sulfatase (type D).

The symptoms of Mucopolysaccharidosis III typically become apparent between the ages of 2 and 6, and may include developmental delays, hyperactivity, behavioral problems, sleep disturbances, coarse facial features, hirsutism, hepatosplenomegaly (enlarged liver and spleen), and joint stiffness. Over time, individuals with Mucopolysaccharidosis III may experience a decline in cognitive abilities, loss of previously acquired skills, and mobility issues.

Currently, there is no cure for Mucopolysaccharidosis III, and treatment is focused on managing the symptoms and improving quality of life. Enzyme replacement therapy, gene therapy, and stem cell transplantation are some of the experimental treatments being investigated for this condition.

Aspartylglucosaminuria (AGA) is a rare inherited metabolic disorder caused by a deficiency in the enzyme Aspartylglucosaminidase (AGAse). This enzyme is responsible for breaking down complex sugars called glycoproteins in the body. Without adequate levels of this enzyme, glycoproteins accumulate in various tissues and organs, leading to a range of symptoms including developmental delays, intellectual disability, coarse facial features, skeletal abnormalities, and skin issues.

AGA is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the condition. If only one copy of the gene is inherited, the person will not develop the disorder but will be a carrier and may pass the gene on to their offspring.

There is currently no cure for Aspartylglucosaminuria, and treatment is focused on managing symptoms and improving quality of life. Regular monitoring and early intervention can help to address any complications that arise as a result of the disorder.

Cerebroside-sulfatase is an enzyme that plays a crucial role in the breakdown and recycling of lipids within the body, particularly in the brain. Its primary function is to break down a type of lipid called cerebroside sulfate, which is a major component of the myelin sheath that surrounds and insulates nerve fibers in the brain and nervous system.

Cerebroside-sulfatase deficiency can lead to a group of genetic disorders known as the mucopolysaccharidoses (MPS), specifically MPS IIIB or Sanfilippo syndrome B. In this condition, the lack of cerebroside-sulfatase activity leads to an accumulation of cerebroside sulfate in the lysosomes of cells, resulting in progressive neurological deterioration and developmental delays.

Iduronidase is a type of enzyme that helps break down complex sugars called glycosaminoglycans (GAGs) in the body. Specifically, iduronidase is responsible for breaking down a type of GAG called dermatan sulfate and heparan sulfate.

Deficiency or absence of this enzyme can lead to a genetic disorder known as Mucopolysaccharidosis Type I (MPS I), which is characterized by the accumulation of GAGs in various tissues and organs, leading to progressive damage and impairment. There are two forms of MPS I: Hurler syndrome, which is the severe form, and Scheie syndrome, which is the milder form.

Iduronidase replacement therapy is available for the treatment of MPS I, in which the missing enzyme is delivered directly to the patient's body through intravenous infusion. This helps break down the accumulated GAGs and prevent further damage to the tissues and organs.

Sandhoff disease is a rare inherited disorder that affects the nervous system. It's a type of GM2 gangliosidosis, which is a group of conditions characterized by the body's inability to break down certain fats (lipids) called gangliosides.

In Sandhoff disease, deficiencies in the enzymes hexosaminidase A and B lead to an accumulation of GM2 ganglioside in various cells, particularly in nerve cells of the brain. This accumulation results in progressive damage to the nervous system.

The symptoms of Sandhoff disease typically appear between 6 months and 2 years of age and can include developmental delay, seizures, an exaggerated startle response, muscle weakness, loss of motor skills, and vision and hearing loss. The condition is often fatal by around age 3. It's caused by mutations in the HEXB gene, and it's inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.

GM1 gangliosidosis is a rare inherited lysosomal storage disorder caused by the deficiency of an enzyme called β-galactosidase. This enzyme is responsible for breaking down certain complex fats (gangliosides) in the body. When this enzyme is lacking or not working properly, these gangliosides accumulate in various cells, particularly in nerve cells of the brain, leading to progressive neurological deterioration.

The condition can present at different ages and with varying severity, depending on the amount of functional β-galactosidase enzyme activity. The three main types of GM1 gangliosidosis are:

1. Early infantile (type I): This is the most severe form, with symptoms appearing within the first few months of life. Infants may appear normal at birth but then develop rapidly progressing neurological problems such as developmental delay, muscle weakness, seizures, and cherry-red spots in the eyes. Life expectancy is typically less than 2 years.

2. Late infantile/juvenile (type II): Symptoms begin between ages 1 and 3 years or later in childhood. Affected individuals may have developmental delay, motor difficulties, muscle weakness, and cognitive decline. Some individuals with this form may also develop corneal clouding and bone abnormalities.

3. Adult/chronic (type III): This is the least severe form of GM1 gangliosidosis, with symptoms appearing in late childhood, adolescence, or adulthood. Symptoms can include neurological problems such as muscle weakness, tremors, and difficulties with coordination and speech.

Currently, there is no cure for GM1 gangliosidosis, and treatment is primarily supportive to manage symptoms and improve quality of life.

Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues and organs, particularly in the liver and spleen. It is caused by mutations in the gene responsible for producing lipoprotein lipase (LPL), an enzyme that helps break down fats called triglycerides in the body.

In CESD, the lack of functional LPL leads to an accumulation of cholesteryl esters in the lysosomes of cells, which can cause damage and inflammation in affected organs. Symptoms of CESD can vary widely, but often include enlargement of the liver and spleen, abdominal pain, jaundice, and fatty deposits under the skin (xanthomas).

CESD is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may involve dietary modifications to reduce the intake of fats, medications to help control lipid levels in the blood, and in some cases, liver transplantation.

GM2 gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of harmful amounts of GM2 gangliosides in the body's cells, particularly in the nerve cells of the brain. There are three main types of GM2 gangliosidoses: Tay-Sachs disease, Sandhoff disease, and AB variant of GM2 gangliosidosis. These conditions are characterized by progressive neurological degeneration, which can lead to severe physical and mental disabilities, and ultimately death in childhood or early adulthood.

The underlying cause of GM2 gangliosides is a deficiency in the enzyme hexosaminidase A (Tay-Sachs and AB variant) or both hexosaminidase A and B (Sandhoff disease), which are responsible for breaking down GM2 gangliosides. Without sufficient enzyme activity, GM2 gangliosides accumulate in the lysosomes of cells, leading to cell dysfunction and death.

Symptoms of GM2 gangliosidoses can vary depending on the specific type and severity of the disorder, but often include developmental delay, muscle weakness, loss of motor skills, seizures, blindness, and dementia. There is currently no cure for GM2 gangliosidoses, and treatment is focused on managing symptoms and improving quality of life.

Glucosylceramidase is an enzyme that is responsible for breaking down glucosylceramide, a type of fatty substance called a lipid, into glucose and ceramide. This process is important in the maintenance of proper functioning of cells, particularly in the nervous system. A deficiency of this enzyme can lead to a genetic disorder known as Gaucher disease, which is characterized by the accumulation of glucosylceramide in various tissues and organs, leading to symptoms such as enlargement of the liver and spleen, bone pain, anemia, and neurological problems.

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by the deficiency of an enzyme called N-acetylgalactosamine 4-sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides, which are found in various tissues and organs throughout the body.

When the enzyme is deficient, GAGs accumulate within the lysosomes of cells, leading to cellular dysfunction and tissue damage. This accumulation results in a range of symptoms that can affect multiple organ systems, including the skeletal system, cardiovascular system, respiratory system, and central nervous system.

The signs and symptoms of MPS VI can vary widely among affected individuals, but common features include: coarse facial features, short stature, stiff joints, restricted mobility, recurrent respiratory infections, hearing loss, heart valve abnormalities, and clouding of the cornea. The severity of the disease can range from mild to severe, and life expectancy is generally reduced in individuals with more severe forms of the disorder.

MPS VI is inherited as an autosomal recessive trait, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

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.

Neuronal Ceroid-Lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment granules, known as ceroid-lipofuscin, in various tissues including the brain and retina. This accumulation is caused by mutations in different genes involved in lysosomal function or protein degradation pathways. The condition primarily affects neurons, leading to progressive neurological deterioration, including motor and cognitive decline, seizures, visual loss, and premature death. NCLs are also known as Batten disease, and they have several subtypes classified based on the age of onset, clinical presentation, and genetic defects.

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.

The Central Nervous System (CNS) is the part of the nervous system that consists of the brain and spinal cord. It is called the "central" system because it receives information from, and sends information to, the rest of the body through peripheral nerves, which make up the Peripheral Nervous System (PNS).

The CNS is responsible for processing sensory information, controlling motor functions, and regulating various autonomic processes like heart rate, respiration, and digestion. The brain, as the command center of the CNS, interprets sensory stimuli, formulates thoughts, and initiates actions. The spinal cord serves as a conduit for nerve impulses traveling to and from the brain and the rest of the body.

The CNS is protected by several structures, including the skull (which houses the brain) and the vertebral column (which surrounds and protects the spinal cord). Despite these protective measures, the CNS remains vulnerable to injury and disease, which can have severe consequences due to its crucial role in controlling essential bodily functions.

Glycogen Storage Disease Type IV (GSD IV), also known as Andersen's disease, is a rare inherited metabolic disorder that affects the body's ability to break down glycogen, a complex carbohydrate that serves as a source of energy for the body.

In GSD IV, there is a deficiency in the enzyme called glycogen branching enzyme (GBE), which is responsible for adding branches to the glycogen molecule during its synthesis. This results in an abnormal form of glycogen that accumulates in various organs and tissues, particularly in the liver, heart, and muscles.

The accumulation of this abnormal glycogen can lead to progressive damage and failure of these organs, resulting in a variety of symptoms such as muscle weakness, hypotonia, hepatomegaly (enlarged liver), cardiomyopathy (heart muscle disease), and developmental delay. The severity of the disease can vary widely, with some individuals experiencing milder symptoms while others may have a more severe and rapidly progressing form of the disorder.

Currently, there is no cure for GSD IV, and treatment is focused on managing the symptoms and slowing down the progression of the disease. This may include providing nutritional support, addressing specific organ dysfunction, and preventing complications.

Glycogen Storage Disease Type III, also known as Cori or Forbes disease, is a rare inherited metabolic disorder caused by deficiency of the debranching enzyme amylo-1,6-glucosidase, which is responsible for breaking down glycogen in the liver and muscles. This results in an abnormal accumulation of glycogen in these organs leading to its associated symptoms.

There are two main types: Type IIIa affects both the liver and muscles, while Type IIIb affects only the liver. Symptoms can include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), hyperlipidemia (high levels of fats in the blood), and growth retardation. In Type IIIa, muscle weakness and cardiac problems may also occur.

The diagnosis is usually made through biochemical tests and genetic analysis. Treatment often involves dietary management with frequent meals to prevent hypoglycemia, and in some cases, enzyme replacement therapy. However, there is no cure for this condition and life expectancy can be reduced depending on the severity of the symptoms.

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.

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.

Alpha-glucosidases are a group of enzymes that break down complex carbohydrates into simpler sugars, such as glucose, by hydrolyzing the alpha-1,4 and alpha-1,6 glycosidic bonds in oligosaccharides, disaccharides, and polysaccharides. These enzymes are located on the brush border of the small intestine and play a crucial role in carbohydrate digestion and absorption.

Inhibitors of alpha-glucosidases, such as acarbose and miglitol, are used in the treatment of type 2 diabetes to slow down the digestion and absorption of carbohydrates, which helps to reduce postprandial glucose levels and improve glycemic control.

Glucuronidase is an enzyme that catalyzes the hydrolysis of glucuronic acid from various substrates, including molecules that have been conjugated with glucuronic acid as part of the detoxification process in the body. This enzyme plays a role in the breakdown and elimination of certain drugs, toxins, and endogenous compounds, such as bilirubin. It is found in various tissues and organisms, including humans, bacteria, and insects. In clinical contexts, glucuronidase activity may be measured to assess liver function or to identify the presence of certain bacterial infections.

N-Acetylgalactosamine-4-Sulfatase is an enzyme that is responsible for breaking down complex carbohydrates in the body. Its specific function is to remove a sulfate group from a particular type of sugar molecule called N-acetylgalactosamine-4-sulfate, which is found on certain proteoglycans (large, complex sugars attached to proteins) in the body.

This enzyme plays an important role in the normal functioning of cells and tissues, particularly in the development and maintenance of bones, cartilage, and other connective tissues. Deficiencies in this enzyme can lead to a rare genetic disorder called Morquio A syndrome (also known as MPS IVA), which is characterized by skeletal abnormalities, short stature, and other health problems.

Niemann-Pick diseases are a group of inherited metabolic disorders characterized by the accumulation of lipids, particularly sphingomyelin and cholesterol, within cells due to deficiencies in certain enzymes. These diseases are caused by mutations in the SMPD1, NPC1, or NPC2 genes, among others. There are four main types of Niemann-Pick disease (Types A, B, C, and D), each with varying severity and symptoms.

Type A and Type B diseases, also known as Acid Sphingomyelinase Deficiency or ASMD, result from mutations in the SMPD1 gene leading to a deficiency of acid sphingomyelinase enzyme. This causes excessive accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, lungs, and brain.

Type A is the most severe form, typically presenting in infancy with symptoms such as developmental delay, feeding difficulties, enlarged liver and spleen, lung infection, and progressive neurological degeneration, which often leads to early death, usually before age 3.

Type B has a broader range of severity and onset, from infancy to adulthood. Symptoms may include enlarged liver and spleen, lung disease, poor growth, and varying degrees of neurological impairment. Type B patients can survive into adolescence or adulthood, depending on the severity of their symptoms.

Type C and Type D diseases, also known as Niemann-Pick Type C Disease (NPC), are caused by mutations in either the NPC1 or NPC2 genes, leading to defective intracellular lipid transport. This results in excessive accumulation of cholesterol and other lipids within cells, particularly in the brain, liver, spleen, and lungs.

Type C typically presents in childhood but can also manifest in adolescence or adulthood. Symptoms include progressive neurological degeneration, ataxia, seizures, dementia, problems with speech and swallowing, and yellowish skin (jaundice) at birth or during infancy due to liver involvement. Type C patients usually have a shorter life expectancy, often surviving into their teens, twenties, or thirties.

Type D is a subtype of NPC that affects people of Nova Scotian descent and has similar symptoms to Type C but with an earlier onset and faster progression.

Mucopolysaccharidosis IV (MPS IV), also known as Morquio Syndrome, is a rare genetic disorder that belongs to the family of diseases called mucopolysaccharidoses. It is characterized by the accumulation of glycosaminoglycans (GAGs or mucopolysaccharides) in various tissues and organs due to deficiencies in specific enzymes needed to break down these complex carbohydrates.

There are two types of MPS IV: Type A and Type B, which are caused by deficiencies in different enzymes (GALNS and B3GALNT1, respectively). Both types result in similar symptoms but may vary in severity. The accumulation of GAGs primarily affects the bones, cartilage, eyes, ears, heart, and respiratory system.

Common features of MPS IV include:
* Dwarfism with short trunk and long limbs
* Progressive skeletal abnormalities such as kyphosis (hunchback), scoliosis (curvature of the spine), pectus carinatum (protruding breastbone), and joint laxity or stiffness
* Coarse facial features
* Corneal clouding
* Hearing loss
* Heart valve abnormalities
* Respiratory issues
* Hypermobile and dislocated joints
* Carpal tunnel syndrome
* Spinal cord compression

Treatment for MPS IV primarily focuses on managing symptoms, improving quality of life, and preventing complications. Enzyme replacement therapy (ERT) is available for Type B but not for Type A. Other treatments may include physical therapy, surgery, and medications to address specific symptoms.

Beta-N-Acetylhexosaminidases are a group of enzymes that play a role in the breakdown and recycling of complex carbohydrates in the body. Specifically, they help to break down gangliosides, which are a type of molecule found in cell membranes.

There are several different isoforms of beta-N-Acetylhexosaminidases, including A, B, and S. These isoforms are formed by different combinations of subunits, which can affect their activity and substrate specificity.

Mutations in the genes that encode for these enzymes can lead to a variety of genetic disorders, including Tay-Sachs disease and Sandhoff disease. These conditions are characterized by an accumulation of gangliosides in the brain, which can cause progressive neurological deterioration and death.

Treatment for these conditions typically involves managing symptoms and providing supportive care, as there is currently no cure. Enzyme replacement therapy has been explored as a potential treatment option, but its effectiveness varies depending on the specific disorder and the age of the patient.

Beta-Mannosidosis is a rare inherited metabolic disorder caused by a deficiency of the enzyme beta-mannosidase. This enzyme is responsible for breaking down complex carbohydrates called glycoproteins in the body. When it is missing or not functioning properly, these glycoproteins can accumulate in various tissues and organs, leading to a range of symptoms.

The signs and symptoms of beta-mannosidosis can vary widely, but may include developmental delays, intellectual disability, coarse facial features, skeletal abnormalities, hearing loss, recurrent respiratory infections, and seizures. The severity of the disease can also vary, with some individuals experiencing mild symptoms while others are more severely affected.

Beta-mannosidosis is typically inherited as an autosomal recessive trait, which means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the disease. It is diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment is currently limited to supportive care, as there is no specific therapy available for this condition.

Plant poisoning is a form of poisoning that occurs when someone ingests, inhales, or comes into contact with any part of a plant that contains toxic substances. These toxins can cause a range of symptoms, depending on the type and amount of plant consumed or exposed to, as well as the individual's age, health status, and sensitivity to the toxin.

Symptoms of plant poisoning may include nausea, vomiting, diarrhea, abdominal pain, difficulty breathing, skin rashes, seizures, or in severe cases, even death. Some common plants that can cause poisoning include poison ivy, poison oak, foxglove, oleander, and hemlock, among many others.

If you suspect plant poisoning, it is important to seek medical attention immediately and bring a sample of the plant or information about its identity if possible. This will help healthcare providers diagnose and treat the poisoning more effectively.

Tay-Sachs Disease is a rare, inherited autosomal recessive disorder that affects the nervous system's functioning. It results from the deficiency of an enzyme called hexosaminidase A (Hex-A), which is necessary for breaking down gangliosides, a type of fatty substance found in nerve cells. When Hex-A is absent or insufficient, gangliosides accumulate abnormally in the nerve cells, leading to their progressive destruction and severe neurological deterioration.

The classic infantile form of Tay-Sachs Disease manifests within the first six months of life with symptoms such as loss of motor skills, seizures, paralysis, dementia, blindness, and eventually death, usually by age four. Late-onset forms of the disease also exist, which may present in childhood or adulthood with milder symptoms.

Tay-Sachs Disease is more prevalent among individuals of Ashkenazi Jewish, French Canadian, and Cajun descent. Genetic counseling and prenatal testing are recommended for couples at risk of passing on the disease.

Hexosaminidase B is a type of enzyme that is involved in the breakdown of complex lipids called gangliosides in the body. These enzymes are found in lysosomes, which are structures inside cells that break down and recycle various materials.

Hexosaminidase B specifically helps to break down a particular type of ganglioside called GM2 ganglioside, which is abundant in the nervous system. Mutations in the gene that provides instructions for making this enzyme can lead to a condition called Tay-Sachs disease, which is characterized by the accumulation of GM2 gangliosides in the nerve cells, leading to progressive neurological deterioration.

In summary, Hexosaminidase B is an essential enzyme for breaking down certain types of lipids in the body, and its deficiency can lead to serious health consequences.

I apologize for any confusion, but "Malvaceae" is not a medical term. It is a taxonomic category in botany, referring to the mallow family of plants, which includes over 4,000 species. Some plants in this family have been used in traditional medicine, but Malvaceae itself does not have a specific medical definition.

Wolman disease is a rare inherited disorder of lipid metabolism, specifically affecting the enzyme acid lipase that is responsible for breaking down cholesteryl esters and triglycerides in lysosomes. This autosomal recessive condition leads to an accumulation of these fatty substances in various tissues and organs, including the liver, spleen, intestines, adrenal glands, and lymph nodes.

The symptoms of Wolman disease typically appear within the first few months of life and can include vomiting, diarrhea, failure to thrive, abdominal distention, and severe malnutrition. Other features may consist of hepatosplenomegaly (enlarged liver and spleen), calcification of adrenal glands, and progressive deterioration of the nervous system. The disease often results in death within the first two years of life if left untreated.

A related condition called acid lipase deficiency or Cholesteryl Ester Storage Disease (CESD) has a later onset and milder symptoms compared to Wolman disease, as it affects only one form of acid lipase enzyme.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

Alpha-Mannosidase is an enzyme that belongs to the glycoside hydrolase family 47. It is responsible for cleaving alpha-1,3-, alpha-1,6-mannosidic linkages in N-linked oligosaccharides during the process of glycoprotein degradation. A deficiency or malfunction of this enzyme can lead to a lysosomal storage disorder known as alpha-Mannosidosis.

Globoid cell leukodystrophy, also known as Krabbe disease, is a rare inherited disorder that affects the nervous system. It is characterized by the accumulation of abnormal quantities of a protein called psychosine in the brain's nerve cells, leading to their destruction and progressive damage to the protective sheath (myelin) that covers the nerves.

The term "leukodystrophy" refers to a group of disorders that affect the white matter of the brain, which is primarily composed of myelin. In globoid cell leukodystrophy, the accumulation of psychosine in the brain's nerve cells, particularly in macrophages (which are then referred to as "globoid cells"), results in progressive demyelination and severe neurological symptoms.

Early-onset forms of Krabbe disease typically present within the first six months of life, with symptoms such as irritability, feeding difficulties, muscle weakness, and developmental delays. Late-onset forms may not become apparent until later in childhood or even adulthood, with symptoms that can include vision loss, hearing impairment, muscle stiffness, and difficulty coordinating movements. The progression of the disease is often rapid, leading to severe disability and a shortened lifespan.

There is currently no cure for globoid cell leukodystrophy, but various treatments, such as bone marrow transplantation and enzyme replacement therapy, are being investigated to help manage the symptoms and slow down the progression of the disease.

Gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of certain complex lipids called gangliosides in the brain and nervous system. This buildup is due to a deficiency of specific enzymes needed to break down these substances. The three main types of gangliosidoses are:

1. Type 1 - Infantile Neurovisceral or Tay-Sachs Disease: Characterized by the absence of the enzyme hexosaminidase A, leading to severe neurological symptoms such as muscle weakness, blindness, and developmental delay in early infancy, with rapid progression and death usually occurring before age 4.
2. Type 2 - Juvenile or Subacute GM1 Gangliosidosis: Caused by a deficiency of the enzyme beta-galactosidase, resulting in progressive neurological symptoms such as motor and cognitive decline, beginning between ages 6 months and 2 years. Affected individuals may survive into adolescence or early adulthood.
3. Type 3 - Adult or Chronic GM1 Gangliosidosis: Characterized by a deficiency of beta-galactosidase, leading to milder neurological symptoms that appear in late childhood, adolescence, or even adulthood. The progression is slower compared to the other types, and life expectancy varies widely.

Gangliosidoses are autosomal recessive disorders, meaning an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.

Sialic Acid Storage Disease is a rare genetic disorder that affects the metabolism of sialic acids, which are sugars found on the surface of cells. There are two main types: Sialic acid storage disease type I (SASD I), also known as Sialidosis, and Sialic Acid Storage Disease type II (SASD II), also known as galactosialidosis.

In SASD I, there is a deficiency of the enzyme sialidase, which leads to an accumulation of sialic acids in various tissues and organs, including the brain, liver, and eyes. This can result in a range of symptoms, such as coarse facial features, intellectual disability, developmental delay, seizures, cherry-red spots on the retina, and problems with movement and coordination.

In SASD II, there is a deficiency of two enzymes: sialidase and cathepsin A. This results in an accumulation of both sialic acids and glycoproteins in various tissues and organs, leading to symptoms similar to those seen in SASD I, as well as additional features such as hearing loss, heart problems, and weakened bones.

Both forms of Sialic Acid Storage Disease are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and dietary modifications. In some cases, enzyme replacement therapy or bone marrow transplantation may be considered as treatment options.

Serine proteases are a type of enzyme that cleaves peptide bonds in proteins. They have a serine residue in their active site that plays a crucial role in the catalytic mechanism. These enzymes are involved in various biological processes, including blood coagulation, fibrinolysis, inflammation, cell death, and hormone activation. Some examples of serine proteases include trypsin, chymotrypsin, thrombin, and elastase. They play a significant role in disease processes such as cancer, Alzheimer's disease, and emphysema.

Beta-glucosidase is an enzyme that breaks down certain types of complex sugars, specifically those that contain a beta-glycosidic bond. This enzyme is found in various organisms, including humans, and plays a role in the digestion of some carbohydrates, such as cellulose and other plant-based materials.

In the human body, beta-glucosidase is produced by the lysosomes, which are membrane-bound organelles found within cells that help break down and recycle various biological molecules. Beta-glucosidase is involved in the breakdown of glycolipids and gangliosides, which are complex lipids that contain sugar molecules.

Deficiencies in beta-glucosidase activity can lead to certain genetic disorders, such as Gaucher disease, in which there is an accumulation of glucocerebrosidase, a type of glycolipid, within the lysosomes. This can result in various symptoms, including enlargement of the liver and spleen, anemia, and bone pain.

Chondro-4-sulfatase is an enzyme that belongs to the family of hydrolases, specifically those acting on ester bonds in sulfuric acid esters. It is responsible for catalyzing the hydrolysis of the 4-sulfate ester group from N-acetylgalactosamine 4-sulfate residues found in chondroitin 4-sulfate, a type of glycosaminoglycan (GAG) that is abundant in connective tissues such as cartilage.

Chondroitin 4-sulfate plays important roles in the structure and function of the extracellular matrix, including regulating cell adhesion, migration, and differentiation. The action of chondro-4-sulfatase helps to control the balance between sulfated and non-sulfated GAG chains, which is critical for maintaining normal tissue homeostasis.

Defects in chondro-4-sulfatase activity can lead to a rare genetic disorder called chondrodysplasia punctata type 1B (CDPX1B), also known as multiple sulfatase deficiency (MSD). This condition is characterized by skeletal abnormalities, developmental delay, and other neurological symptoms.

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.

A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.

Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.

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.

The nervous system is a complex, highly organized network of specialized cells called neurons and glial cells that communicate with each other via electrical and chemical signals to coordinate various functions and activities in the body. It consists of two main parts: the central nervous system (CNS), including the brain and spinal cord, and the peripheral nervous system (PNS), which includes all the nerves and ganglia outside the CNS.

The primary function of the nervous system is to receive, process, and integrate information from both internal and external environments and then respond by generating appropriate motor outputs or behaviors. This involves sensing various stimuli through specialized receptors, transmitting this information through afferent neurons to the CNS for processing, integrating this information with other inputs and memories, making decisions based on this processed information, and finally executing responses through efferent neurons that control effector organs such as muscles and glands.

The nervous system can be further divided into subsystems based on their functions, including the somatic nervous system, which controls voluntary movements and reflexes; the autonomic nervous system, which regulates involuntary physiological processes like heart rate, digestion, and respiration; and the enteric nervous system, which is a specialized subset of the autonomic nervous system that controls gut functions. Overall, the nervous system plays a critical role in maintaining homeostasis, regulating behavior, and enabling cognition and consciousness.

Cystinosis is a rare, inherited metabolic disorder that affects primarily the eyes, kidneys, and liver. It is characterized by an abnormal accumulation of the amino acid cystine within lysosomes (cellular organelles responsible for breaking down and recycling waste products) due to a defect in the gene CTNS that encodes for a protein called cystinosin. This leads to the formation of crystals, which can cause cell damage and multi-organ dysfunction.

There are three main types of cystinosis:

1. Nephropathic or infantile cystinosis: This is the most severe form, with symptoms appearing within the first year of life. It primarily affects the kidneys, leading to Fanconi syndrome (a condition characterized by excessive loss of nutrients in urine), growth failure, and kidney dysfunction. If left untreated, it can progress to end-stage renal disease (ESRD) around the age of 10.
2. Intermediate cystinosis: This form presents during childhood with milder kidney involvement but can still lead to ESRD in adolescence or early adulthood. Eye and central nervous system abnormalities may also be present.
3. Non-nephropathic or ocular cystinosis: This is the mildest form, primarily affecting the eyes. Symptoms include photophobia (sensitivity to light), corneal opacities, and decreased vision. Kidney function remains normal in this type.

Treatment for cystinosis typically involves a combination of medications to manage symptoms and slow disease progression. Cysteamine therapy, which helps remove excess cystine from cells, is the primary treatment for all types of cystinosis. Regular monitoring and management of complications are essential to maintain quality of life and prolong survival.

Glycogen Storage Disease Type VII, also known as Tarui's disease, is a rare inherited metabolic disorder caused by a deficiency of the enzyme phosphofructokinase (PFK), which is required for glycogenolysis – the breakdown of glycogen to glucose-1-phosphate and ultimately into glucose. This enzyme deficiency results in the accumulation of glycogen, particularly in muscle and red blood cells, leading to symptoms such as exercise-induced muscle cramps, myoglobinuria (the presence of myoglobin in the urine), and hemolytic anemia. The disease can also cause muscle weakness, fatigue, and dark-colored urine after strenuous exercise. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

I'm sorry for any confusion, but "psychosine" is not a commonly used term in medicine or psychology. It is a lipid molecule that has been researched in the context of certain neurological conditions, particularly Krabbe disease, which is a rare and fatal genetic disorder affecting the nervous system.

In Krabbe disease, psychosine accumulates in the body due to a deficiency of an enzyme called galactocerebrosidase. This buildup of psychosine is thought to contribute to the damage and destruction of nerve cells, leading to the symptoms of the disease. However, it's important to note that this is still an area of ongoing research, and there is no medical definition for "psychosine" in a general sense.

Hexosaminidase A is an enzyme that is responsible for breaking down certain complex molecules in the body, specifically gangliosides. This enzyme is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively.

Deficiency or mutation in the HEXA gene can lead to a genetic disorder called Tay-Sachs disease, which is characterized by an accumulation of gangliosides in the nerve cells, leading to progressive neurological degeneration. The function of hexosaminidase A is to break down these gangliosides into simpler molecules that can be eliminated from the body. Without sufficient levels of this enzyme, the gangliosides build up and cause damage to the nervous system.

I'm sorry for any confusion, but "Mannosephosphates" is not a widely recognized or established term in medicine or biochemistry. It seems that this term may be a combination of "mannose," which is a type of sugar (monosaccharide), and "phosphates," which are compounds containing phosphorus. However, without more context, it's difficult to provide an accurate medical definition for this term.

In biochemistry, mannose can be linked to phosphate groups in various ways, such as in the context of mannose-1-phosphate or mannose-6-phosphate, which are involved in different metabolic pathways. If you could provide more information about where you encountered this term, I might be able to give a more precise definition or explanation.

A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.

The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.

Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.

Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.

Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.

Glucosylceramides are a type of glycosphingolipid, which are complex lipids found in the outer layer of cell membranes. They consist of a ceramide molecule (a fatty acid and sphingosine) with a glucose molecule attached to it through a glycosidic bond.

Glucosylceramides play important roles in various cellular processes, including cell signaling, membrane structure, and cell-to-cell recognition. They are particularly abundant in the nervous system, where they contribute to the formation of the myelin sheath that surrounds nerve fibers.

Abnormal accumulation of glucosylceramides is associated with certain genetic disorders, such as Gaucher disease and Krabbe disease, which are characterized by neurological symptoms and other health problems. Enzyme replacement therapy or stem cell transplantation may be used to treat these conditions.

Glycosaminoglycans (GAGs) are long, unbranched polysaccharides composed of repeating disaccharide units. They are a major component of the extracellular matrix and connective tissues in the body. GAGs are negatively charged due to the presence of sulfate and carboxyl groups, which allows them to attract positively charged ions and water molecules, contributing to their ability to retain moisture and maintain tissue hydration and elasticity.

GAGs can be categorized into four main groups: heparin/heparan sulfate, chondroitin sulfate/dermatan sulfate, keratan sulfate, and hyaluronic acid. These different types of GAGs have varying structures and functions in the body, including roles in cell signaling, inflammation, and protection against enzymatic degradation.

Heparin is a highly sulfated form of heparan sulfate that is found in mast cells and has anticoagulant properties. Chondroitin sulfate and dermatan sulfate are commonly found in cartilage and contribute to its resiliency and ability to withstand compressive forces. Keratan sulfate is found in corneas, cartilage, and bone, where it plays a role in maintaining the structure and function of these tissues. Hyaluronic acid is a large, nonsulfated GAG that is widely distributed throughout the body, including in synovial fluid, where it provides lubrication and shock absorption for joints.

Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disorder that affects multiple organ systems in the body. It is caused by mutations in the SUMF1 gene, which provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). FGE is essential for the function of several sulfatase enzymes, which are responsible for removing sulfate groups from certain sugar molecules attached to proteins and lipids.

In MSD, the activity of all or most of these sulfatase enzymes is reduced or absent, leading to the accumulation of sulfated molecules in various tissues and organs. This can result in a wide range of symptoms that typically appear in infancy or early childhood, including developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, vision and hearing loss, and problems with mobility and coordination.

MSD 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 disease. The incidence of MSD is estimated to be less than 1 in 1 million people worldwide. Currently, there is no cure for MSD and treatment is focused on managing symptoms and improving quality of life.

Niemann-Pick Disease, Type C (NPC) is a rare, progressive, and fatal neurovisceral lipid storage disorder caused by mutations in the NPC1 or NPC2 genes. These genetic defects result in impaired intracellular transport of cholesterol and other lipids, leading to excessive accumulation within lysosomes of various tissues, particularly in the brain, liver, spleen, and lungs.

The disease primarily affects children, although late-onset forms have been reported in adults. The symptoms and severity can vary widely among patients but often include neurological manifestations such as ataxia, dysarthria, dysphagia, cognitive decline, seizures, and vertical supranuclear gaze palsy (VSGP). Other features may involve visceral involvement like hepatosplenomegaly, jaundice, or pulmonary complications.

There is currently no cure for NPC, but treatments aim to manage symptoms, slow disease progression, and improve quality of life. Miglustat and cyclodextrin (HPβCD) are two FDA-approved therapeutic options that have shown some promise in stabilizing or delaying neurological decline in NPC patients. Early diagnosis and intervention are crucial for optimizing outcomes and providing appropriate supportive care.

Transient receptor potential (TRP) channels are a type of ion channel proteins that are widely expressed in various tissues and cells, including the sensory neurons, epithelial cells, and immune cells. They are named after the transient receptor potential mutant flies, which have defects in light-induced electrical responses due to mutations in TRP channels.

TRP channels are polymodal signal integrators that can be activated by a diverse range of physical and chemical stimuli, such as temperature, pressure, touch, osmolarity, pH, and various endogenous and exogenous ligands. Once activated, TRP channels allow the flow of cations, including calcium (Ca2+), sodium (Na+), and magnesium (Mg2+) ions, across the cell membrane.

TRP channels play critical roles in various physiological processes, such as sensory perception, neurotransmission, muscle contraction, cell proliferation, differentiation, migration, and apoptosis. Dysfunction of TRP channels has been implicated in a variety of pathological conditions, including pain, inflammation, neurodegenerative diseases, cardiovascular diseases, metabolic disorders, and cancer.

There are six subfamilies of TRP channels, based on their sequence homology and functional properties: TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPA (ankyrin), TRPP (polycystin), and TRPML (mucolipin). Each subfamily contains several members with distinct activation mechanisms, ion selectivity, and tissue distribution.

In summary, Transient Receptor Potential Channels are a group of polymodal cation channels that play critical roles in various physiological processes and are implicated in many pathological conditions.

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.

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).

Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive genetic disorder caused by the deficiency of an enzyme called iduronate sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides in the body.

When this enzyme is missing or not functioning properly, GAGs accumulate in various tissues and organs, leading to progressive cellular damage and organ dysfunction. The symptoms of MPS II can vary widely but often include developmental delays, coarse facial features, hearing loss, airway obstruction, heart problems, enlarged liver and spleen, and joint stiffness.

The severity of the disease can range from mild to severe, with some individuals experiencing only moderate symptoms while others may have significant intellectual disability and life-threatening complications. Treatment options for MPS II include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but there is currently no cure for the disease.

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 "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.

Mannosidases are a group of enzymes that catalyze the hydrolysis of mannose residues from glycoproteins, oligosaccharides, and glycolipids. These enzymes play a crucial role in the processing and degradation of N-linked glycans, which are carbohydrate structures attached to proteins in eukaryotic cells.

There are several types of mannosidases, including alpha-mannosidase and beta-mannosidase, which differ in their specificity for the type of linkage they cleave. Alpha-mannosidases hydrolyze alpha-1,2-, alpha-1,3-, alpha-1,6-mannosidic bonds, while beta-mannosidases hydrolyze beta-1,4-mannosidic bonds.

Deficiencies in mannosidase activity can lead to various genetic disorders, such as alpha-mannosidosis and beta-mannosidosis, which are characterized by the accumulation of unprocessed glycoproteins and subsequent cellular dysfunction.

Dipeptidyl-peptidases (DPPs) and tripeptidyl-peptidases (TPPs) are two types of enzymes that belong to the class of peptidases, which are proteins that help break down other proteins into smaller peptides or individual amino acids.

Dipeptidyl-peptidases cleave dipeptides (two-amino acid units) from the N-terminus (the end with a free amino group) of polypeptides and proteins, while tripeptidyl-peptidases cleave tripeptides (three-amino acid units) from the same location.

There are several different isoforms of DPPs and TPPs that have been identified in various organisms, including humans. These enzymes play important roles in regulating various physiological processes, such as digestion, immune function, and blood glucose homeostasis.

Inhibitors of DPP-4, one specific isoform of DPPs, have been developed for the treatment of type 2 diabetes, as they help increase the levels of incretin hormones that stimulate insulin secretion and suppress glucagon production.

Glycosphingolipids are a type of complex lipid molecule found in animal cell membranes, particularly in the outer leaflet of the plasma membrane. They consist of a hydrophobic ceramide backbone, which is composed of sphingosine and fatty acids, linked to one or more hydrophilic sugar residues, such as glucose or galactose.

Glycosphingolipids can be further classified into two main groups: neutral glycosphingolipids (which include cerebrosides and gangliosides) and acidic glycosphingolipids (which are primarily gangliosides). Glycosphingolipids play important roles in various cellular processes, including cell recognition, signal transduction, and cell adhesion.

Abnormalities in the metabolism or structure of glycosphingolipids have been implicated in several diseases, such as lysosomal storage disorders (e.g., Gaucher's disease, Fabry's disease) and certain types of cancer (e.g., ganglioside-expressing neuroblastoma).

Glucose-6-phosphatase is an enzyme that plays a crucial role in the regulation of glucose metabolism. It is primarily located in the endoplasmic reticulum of cells in liver, kidney, and intestinal mucosa. The main function of this enzyme is to remove the phosphate group from glucose-6-phosphate (G6P), converting it into free glucose, which can then be released into the bloodstream and used as a source of energy by cells throughout the body.

The reaction catalyzed by glucose-6-phosphatase is as follows:

Glucose-6-phosphate + H2O → Glucose + Pi (inorganic phosphate)

This enzyme is essential for maintaining normal blood glucose levels, particularly during periods of fasting or starvation. In these situations, the body needs to break down stored glycogen in the liver and convert it into glucose to supply energy to the brain and other vital organs. Glucose-6-phosphatase is a key enzyme in this process, allowing for the release of free glucose into the bloodstream.

Deficiencies or mutations in the gene encoding glucose-6-phosphatase can lead to several metabolic disorders, such as glycogen storage disease type I (von Gierke's disease) and other related conditions. These disorders are characterized by an accumulation of glycogen and/or fat in various organs, leading to impaired glucose metabolism, growth retardation, and increased risk of infection and liver dysfunction.

Central nervous system (CNS) diseases refer to medical conditions that primarily affect the brain and spinal cord. The CNS is responsible for controlling various functions in the body, including movement, sensation, cognition, and behavior. Therefore, diseases of the CNS can have significant impacts on a person's quality of life and overall health.

There are many different types of CNS diseases, including:

1. Infectious diseases: These are caused by viruses, bacteria, fungi, or parasites that infect the brain or spinal cord. Examples include meningitis, encephalitis, and polio.
2. Neurodegenerative diseases: These are characterized by progressive loss of nerve cells in the brain or spinal cord. Examples include Alzheimer's disease, Parkinson's disease, and Huntington's disease.
3. Structural diseases: These involve damage to the physical structure of the brain or spinal cord, such as from trauma, tumors, or stroke.
4. Functional diseases: These affect the function of the nervous system without obvious structural damage, such as multiple sclerosis and epilepsy.
5. Genetic disorders: Some CNS diseases are caused by genetic mutations, such as spinal muscular atrophy and Friedreich's ataxia.

Symptoms of CNS diseases can vary widely depending on the specific condition and the area of the brain or spinal cord that is affected. They may include muscle weakness, paralysis, seizures, loss of sensation, difficulty with coordination and balance, confusion, memory loss, changes in behavior or mood, and pain. Treatment for CNS diseases depends on the specific condition and may involve medications, surgery, rehabilitation therapy, or a combination of these approaches.

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.

Transient Receptor Potential Melastatin (TRPM) cation channels are a subfamily of the transient receptor potential (TRP) channel superfamily, which are non-selective cation channels that play important roles in various cellular processes such as sensory perception, cell proliferation, and migration.

The TRPM subfamily consists of eight members (TRPM1-8), each with distinct functional properties and expression patterns. These channels are permeable to both monovalent and divalent cations, including calcium (Ca^2+^) and magnesium (Mg^2+^).

TRPM channels can be activated by a variety of stimuli, such as changes in temperature, voltage, osmolarity, and chemical ligands. For example, TRPM8 is known to be activated by cold temperatures and menthol, while TRPV1 is activated by heat and capsaicin.

Dysregulation of TRPM channels has been implicated in various pathological conditions, including pain, neurodegenerative diseases, and cancer. Therefore, understanding the structure and function of these channels may provide insights into potential therapeutic targets for these conditions.

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.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

Autophagy is a fundamental cellular process that involves the degradation and recycling of damaged or unnecessary cellular components, such as proteins and organelles. The term "autophagy" comes from the Greek words "auto" meaning self and "phagy" meaning eating. It is a natural process that occurs in all types of cells and helps maintain cellular homeostasis by breaking down and recycling these components.

There are several different types of autophagy, including macroautophagy, microautophagy, and chaperone-mediated autophagy (CMA). Macroautophagy is the most well-known form and involves the formation of a double-membraned vesicle called an autophagosome, which engulfs the cellular component to be degraded. The autophagosome then fuses with a lysosome, an organelle containing enzymes that break down and recycle the contents of the autophagosome.

Autophagy plays important roles in various cellular processes, including adaptation to starvation, removal of damaged organelles, clearance of protein aggregates, and regulation of programmed cell death (apoptosis). Dysregulation of autophagy has been implicated in a number of diseases, including cancer, neurodegenerative disorders, and infectious diseases.

Sphingomyelin phosphodiesterase is an enzyme that catalyzes the hydrolysis of sphingomyelin, a sphingolipid found in animal tissues, into ceramide and phosphorylcholine. This enzyme plays a crucial role in the metabolism of sphingomyelin and the regulation of cellular processes such as apoptosis, differentiation, and inflammation.

There are several isoforms of this enzyme, including acid sphingomyelinase (ASM) and neutral sphingomyelinase (NSM), which differ in their subcellular localization, regulation, and physiological functions. Deficiencies or dysfunctions in sphingomyelin phosphodiesterase activity have been implicated in various diseases, such as Niemann-Pick disease, atherosclerosis, and cancer.

Acetylglucosaminidase (ACG) is an enzyme that catalyzes the hydrolysis of N-acetyl-beta-D-glucosaminides, which are found in glycoproteins and glycolipids. This enzyme plays a crucial role in the degradation and recycling of these complex carbohydrates within the body.

Deficiency or malfunction of Acetylglucosaminidase can lead to various genetic disorders, such as mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy), which are characterized by the accumulation of glycoproteins and glycolipids in lysosomes, resulting in cellular dysfunction and progressive damage to multiple organs.

There are many diseases that can affect cats, and the specific medical definitions for these conditions can be quite detailed and complex. However, here are some common categories of feline diseases and examples of each:

1. Infectious diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include:
* Feline panleukopenia virus (FPV), also known as feline parvovirus, which can cause severe gastrointestinal symptoms and death in kittens.
* Feline calicivirus (FCV), which can cause upper respiratory symptoms such as sneezing and nasal discharge.
* Feline leukemia virus (FeLV), which can suppress the immune system and lead to a variety of secondary infections and diseases.
* Bacterial infections, such as those caused by Pasteurella multocida or Bartonella henselae, which can cause abscesses or other symptoms.
2. Neoplastic diseases: These are cancerous conditions that can affect various organs and tissues in cats. Examples include:
* Lymphoma, which is a common type of cancer in cats that can affect the lymph nodes, spleen, liver, and other organs.
* Fibrosarcoma, which is a type of soft tissue cancer that can arise from fibrous connective tissue.
* Squamous cell carcinoma, which is a type of skin cancer that can be caused by exposure to sunlight or tobacco smoke.
3. Degenerative diseases: These are conditions that result from the normal wear and tear of aging or other factors. Examples include:
* Osteoarthritis, which is a degenerative joint disease that can cause pain and stiffness in older cats.
* Dental disease, which is a common condition in cats that can lead to tooth loss, gum inflammation, and other problems.
* Heart disease, such as hypertrophic cardiomyopathy (HCM), which is a thickening of the heart muscle that can lead to congestive heart failure.
4. Hereditary diseases: These are conditions that are inherited from a cat's parents and are present at birth or develop early in life. Examples include:
* Polycystic kidney disease (PKD), which is a genetic disorder that causes cysts to form in the kidneys and can lead to kidney failure.
* Hypertrophic cardiomyopathy (HCM), which can be inherited as an autosomal dominant trait in some cats.
* Progressive retinal atrophy (PRA), which is a group of genetic disorders that cause degeneration of the retina and can lead to blindness.

Glycogen Storage Disease Type V, also known as McArdle's disease, is a genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in muscles, into glucose, which provides energy for muscle contraction.

This condition results from a deficiency of the enzyme myophosphorylase, which is responsible for breaking down glycogen into glucose-1-phosphate within the muscle fibers. Without sufficient myophosphorylase activity, muscles become easily fatigued and may cramp or become rigid during exercise due to a lack of available energy.

Symptoms typically appear in childhood or adolescence and can include muscle weakness, stiffness, cramps, and myoglobinuria (the presence of myoglobin, a protein found in muscle cells, in the urine) following exercise. Diagnosis is usually confirmed through genetic testing and enzyme assays. Treatment typically involves avoiding strenuous exercise and ensuring adequate hydration and rest before and after physical activity. In some cases, dietary modifications such as high-protein or high-carbohydrate intake may be recommended to help manage symptoms.

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.

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.

The Glycogen Debranching Enzyme System, also known as glycogen debranching enzyme or Amy-1, is a crucial enzyme complex in human biochemistry. It plays an essential role in the metabolism of glycogen, which is a large, branched polymer of glucose that serves as the primary form of energy storage in animals and fungi.

The Glycogen Debranching Enzyme System consists of two enzymatic activities: a transferase and an exo-glucosidase. The transferase activity transfers a segment of a branched glucose chain to another part of the same or another glycogen molecule, while the exo-glucosidase activity cleaves the remaining single glucose units from the outer branches of the glycogen molecule.

This enzyme system is responsible for removing the branched structures of glycogen, allowing the linear chains to be further degraded by other enzymes into glucose molecules that can be used for energy production or stored for later use. Defects in this enzyme complex can lead to several genetic disorders, such as Glycogen Storage Disease Type III (Cori's disease) and Type IV (Andersen's disease), which are characterized by the accumulation of abnormal glycogen molecules in various tissues.

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

Hydrolases are a class of enzymes that help facilitate the breakdown of various types of chemical bonds through a process called hydrolysis, which involves the addition of water. These enzymes catalyze the cleavage of bonds in substrates by adding a molecule of water, leading to the formation of two or more smaller molecules.

Hydrolases play a crucial role in many biological processes, including digestion, metabolism, and detoxification. They can act on a wide range of substrates, such as proteins, lipids, carbohydrates, and nucleic acids, breaking them down into smaller units that can be more easily absorbed or utilized by the body.

Examples of hydrolases include:

1. Proteases: enzymes that break down proteins into smaller peptides or amino acids.
2. Lipases: enzymes that hydrolyze lipids, such as triglycerides, into fatty acids and glycerol.
3. Amylases: enzymes that break down complex carbohydrates, like starches, into simpler sugars, such as glucose.
4. Nucleases: enzymes that cleave nucleic acids, such as DNA or RNA, into smaller nucleotides or oligonucleotides.
5. Phosphatases: enzymes that remove phosphate groups from various substrates, including proteins and lipids.
6. Esterases: enzymes that hydrolyze ester bonds in a variety of substrates, such as those found in some drugs or neurotransmitters.

Hydrolases are essential for maintaining proper cellular function and homeostasis, and their dysregulation can contribute to various diseases and disorders.

Glycogen Storage Disease Type VI, also known as Hers disease, is a rare inherited metabolic disorder caused by deficiency of the liver enzyme called glycogen phosphorylase. This enzyme is responsible for breaking down glycogen, which is a stored form of glucose, into glucose-1-phosphate during the process of glycogenolysis.

In GSD Type VI, the lack of this enzyme leads to an abnormal accumulation of glycogen in the liver, causing hepatomegaly (enlarged liver) and elevated liver enzymes. The symptoms of this condition are usually milder compared to other types of GSD, and may include fatigue, weakness, and hypoglycemia (low blood sugar), especially after prolonged fasting or physical exertion.

The diagnosis of GSD Type VI is typically made through biochemical tests that measure the activity of the glycogen phosphorylase enzyme in liver tissue, as well as genetic testing to identify mutations in the gene responsible for the enzyme's production. Treatment may involve dietary management, such as frequent feeding and avoidance of prolonged fasting, to prevent hypoglycemia. In some cases, medication may be necessary to manage symptoms and prevent complications.

"Drug storage" refers to the proper handling, maintenance, and preservation of medications in a safe and suitable environment to ensure their effectiveness and safety until they are used. Proper drug storage includes:

1. Protecting drugs from light, heat, and moisture: Exposure to these elements can degrade the quality and potency of medications. Therefore, it is recommended to store most drugs in a cool, dry place, away from direct sunlight.

2. Keeping drugs out of reach of children and pets: Medications should be stored in a secure location, such as a locked cabinet or medicine chest, to prevent accidental ingestion or harm to young children and animals.

3. Following storage instructions on drug labels and packaging: Some medications require specific storage conditions, such as refrigeration or protection from freezing. Always follow the storage instructions provided by the manufacturer or pharmacist.

4. Regularly inspecting drugs for signs of degradation or expiration: Check medications for changes in color, consistency, or odor, and discard any that have expired or show signs of spoilage.

5. Storing drugs separately from one another: Keep different medications separate to prevent cross-contamination, incorrect dosing, or accidental mixing of incompatible substances.

6. Avoiding storage in areas with high humidity or temperature fluctuations: Bathrooms, kitchens, and garages are generally not ideal for storing medications due to their exposure to moisture, heat, and temperature changes.

Proper drug storage is crucial for maintaining the safety, efficacy, and stability of medications. Improper storage can lead to reduced potency, increased risk of adverse effects, or even life-threatening situations. Always consult a healthcare professional or pharmacist for specific storage instructions and recommendations.

Iduronate sulfatase is an enzyme that plays a crucial role in the breakdown and recycling of complex sugars called glycosaminoglycans (GAGs). These GAGs are important components of various tissues, including connective tissues, bones, and cartilage.

Iduronate sulfatase is specifically responsible for breaking down a type of GAG known as dermatan sulfate and heparan sulfate by removing sulfate groups from specific sugar molecules in these GAGs. This enzyme is located in the lysosomes, which are membrane-bound organelles within cells that break down and recycle various materials.

Deficiency of iduronate sulfatase leads to a genetic disorder called Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome. In this condition, the lack of functional iduronate sulfatase enzyme results in an accumulation of dermatan sulfate and heparan sulfate in various tissues and organs, leading to progressive damage and a range of symptoms, including developmental delays, coarse facial features, hearing loss, heart problems, and joint stiffness.

1-Deoxynojirimycin (DNJ) is an antagonist of the enzyme alpha-glucosidase, which is involved in the digestion of carbohydrates. DNJ is a naturally occurring compound found in some plants, including mulberry leaves and the roots of the African plant Moringa oleifera. It works by binding to the active site of alpha-glucosidase and inhibiting its activity, which can help to slow down the digestion and absorption of carbohydrates in the small intestine. This can help to reduce postprandial glucose levels (the spike in blood sugar that occurs after a meal) and may have potential benefits for the management of diabetes and other metabolic disorders. DNJ is also being studied for its potential anti-cancer effects.

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.

The Peripheral Nervous System (PNS) is that part of the nervous system which lies outside of the brain and spinal cord. It includes all the nerves and ganglia ( clusters of neurons) outside of the central nervous system (CNS). The PNS is divided into two components: the somatic nervous system and the autonomic nervous system.

The somatic nervous system is responsible for transmitting sensory information from the skin, muscles, and joints to the CNS, and for controlling voluntary movements of the skeletal muscles.

The autonomic nervous system, on the other hand, controls involuntary actions, such as heart rate, digestion, respiratory rate, salivation, perspiration, pupillary dilation, and sexual arousal. It is further divided into the sympathetic and parasympathetic systems, which generally have opposing effects and maintain homeostasis in the body.

Damage to the peripheral nervous system can result in various medical conditions such as neuropathies, neuritis, plexopathies, and radiculopathies, leading to symptoms like numbness, tingling, pain, weakness, or loss of reflexes in the affected area.

Lipidoses are a group of genetic disorders characterized by abnormal accumulation of lipids (fats or fat-like substances) in various tissues and cells of the body due to defects in lipid metabolism. These disorders include conditions such as Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Wolman disease, among others. The accumulation of lipids can lead to progressive damage in multiple organs, resulting in a range of symptoms and health complications. Early diagnosis and management are essential for improving the quality of life and prognosis of affected individuals.

Gene transfer techniques, also known as gene therapy, refer to medical procedures where genetic material is introduced into an individual's cells or tissues to treat or prevent diseases. This can be achieved through various methods:

1. **Viral Vectors**: The most common method uses modified viruses, such as adenoviruses, retroviruses, or lentiviruses, to carry the therapeutic gene into the target cells. The virus infects the cell and inserts the new gene into the cell's DNA.

2. **Non-Viral Vectors**: These include methods like electroporation (using electric fields to create pores in the cell membrane), gene guns (shooting gold particles coated with DNA into cells), or liposomes (tiny fatty bubbles that can enclose DNA).

3. **Direct Injection**: In some cases, the therapeutic gene can be directly injected into a specific tissue or organ.

The goal of gene transfer techniques is to supplement or replace a faulty gene with a healthy one, thereby correcting the genetic disorder. However, these techniques are still largely experimental and have their own set of challenges, including potential immune responses, issues with accurate targeting, and risks of mutations or cancer development.

Iminosugars are a class of naturally occurring compounds that are structural analogs of simple sugars (monosaccharides), in which the oxygen atom in the furan ring is replaced by a nitrogen atom. This small change in structure gives iminosugars unique biological properties, particularly their ability to inhibit carbohydrate-processing enzymes such as glycosidases and glycosyltransferases.

Iminosugars are found in various plants, animals, and microorganisms, and have been studied for their potential therapeutic applications in a variety of diseases, including diabetes, viral infections, and cancer. Some iminosugars have been shown to act as potent inhibitors of glycosidases involved in the replication of certain viruses, such as HIV and hepatitis C virus, making them promising candidates for antiviral therapy.

In addition, iminosugars have been investigated for their potential to modulate the immune system and reduce inflammation, which has led to interest in their use as therapeutic agents for autoimmune diseases and other inflammatory conditions. However, further research is needed to fully understand the mechanisms of action and safety profiles of iminosugars before they can be widely used in clinical settings.

"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.

Beta-Mannosidase is an enzyme that breaks down complex carbohydrates known as glycoproteins. It does this by catalyzing the hydrolysis of beta-mannosidic linkages, which are specific types of chemical bonds that connect mannose sugars within glycoproteins.

This enzyme plays an important role in the normal functioning of the body, particularly in the breakdown and recycling of glycoproteins. A deficiency in beta-mannosidase activity can lead to a rare genetic disorder known as beta-Mannosidosis, which is characterized by the accumulation of mannose-rich oligosaccharides in various tissues and organs, leading to progressive neurological deterioration and other symptoms.

Beta-galactosidase is an enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides. It is found in various organisms, including bacteria, yeast, and mammals. In humans, it plays a role in the breakdown and absorption of certain complex carbohydrates, such as lactose, in the small intestine. Deficiency of this enzyme in humans can lead to a disorder called lactose intolerance. In scientific research, beta-galactosidase is often used as a marker for gene expression and protein localization studies.

"Cat" is a common name that refers to various species of small carnivorous mammals that belong to the family Felidae. The domestic cat, also known as Felis catus or Felis silvestris catus, is a popular pet and companion animal. It is a subspecies of the wildcat, which is found in Europe, Africa, and Asia.

Domestic cats are often kept as pets because of their companionship, playful behavior, and ability to hunt vermin. They are also valued for their ability to provide emotional support and therapy to people. Cats are obligate carnivores, which means that they require a diet that consists mainly of meat to meet their nutritional needs.

Cats are known for their agility, sharp senses, and predatory instincts. They have retractable claws, which they use for hunting and self-defense. Cats also have a keen sense of smell, hearing, and vision, which allow them to detect prey and navigate their environment.

In medical terms, cats can be hosts to various parasites and diseases that can affect humans and other animals. Some common feline diseases include rabies, feline leukemia virus (FeLV), feline immunodeficiency virus (FIV), and toxoplasmosis. It is important for cat owners to keep their pets healthy and up-to-date on vaccinations and preventative treatments to protect both the cats and their human companions.

Electron microscopy (EM) is a type of microscopy that uses a beam of electrons to create an image of the sample being examined, resulting in much higher magnification and resolution than light microscopy. There are several types of electron microscopy, including transmission electron microscopy (TEM), scanning electron microscopy (SEM), and reflection electron microscopy (REM).

In TEM, a beam of electrons is transmitted through a thin slice of the sample, and the electrons that pass through the sample are focused to form an image. This technique can provide detailed information about the internal structure of cells, viruses, and other biological specimens, as well as the composition and structure of materials at the atomic level.

In SEM, a beam of electrons is scanned across the surface of the sample, and the electrons that are scattered back from the surface are detected to create an image. This technique can provide information about the topography and composition of surfaces, as well as the structure of materials at the microscopic level.

REM is a variation of SEM in which the beam of electrons is reflected off the surface of the sample, rather than scattered back from it. This technique can provide information about the surface chemistry and composition of materials.

Electron microscopy has a wide range of applications in biology, medicine, and materials science, including the study of cellular structure and function, disease diagnosis, and the development of new materials and technologies.

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.

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.

Hepatomegaly is a medical term that refers to an enlargement of the liver beyond its normal size. The liver is usually located in the upper right quadrant of the abdomen and can be felt during a physical examination. A healthcare provider may detect hepatomegaly by palpating (examining through touch) the abdomen, noticing that the edge of the liver extends past the lower ribcage.

There are several possible causes for hepatomegaly, including:
- Fatty liver disease (both alcoholic and nonalcoholic)
- Hepatitis (viral or autoimmune)
- Liver cirrhosis
- Cancer (such as primary liver cancer, metastatic cancer, or lymphoma)
- Infections (e.g., bacterial, fungal, or parasitic)
- Heart failure and other cardiovascular conditions
- Genetic disorders (e.g., Gaucher's disease, Niemann-Pick disease, or Hunter syndrome)
- Metabolic disorders (e.g., glycogen storage diseases, hemochromatosis, or Wilson's disease)

Diagnosing the underlying cause of hepatomegaly typically involves a combination of medical history, physical examination, laboratory tests, and imaging studies like ultrasound, CT scan, or MRI. Treatment depends on the specific cause identified and may include medications, lifestyle changes, or, in some cases, surgical intervention.

The spleen is an organ in the upper left side of the abdomen, next to the stomach and behind the ribs. It plays multiple supporting roles in the body:

1. It fights infection by acting as a filter for the blood. Old red blood cells are recycled in the spleen, and platelets and white blood cells are stored there.
2. The spleen also helps to control the amount of blood in the body by removing excess red blood cells and storing platelets.
3. It has an important role in immune function, producing antibodies and removing microorganisms and damaged red blood cells from the bloodstream.

The spleen can be removed without causing any significant problems, as other organs take over its functions. This is known as a splenectomy and may be necessary if the spleen is damaged or diseased.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Glycogen is a complex carbohydrate that serves as the primary form of energy storage in animals, fungi, and bacteria. It is a polysaccharide consisting of long, branched chains of glucose molecules linked together by glycosidic bonds. Glycogen is stored primarily in the liver and muscles, where it can be quickly broken down to release glucose into the bloodstream during periods of fasting or increased metabolic demand.

In the liver, glycogen plays a crucial role in maintaining blood glucose levels by releasing glucose when needed, such as between meals or during exercise. In muscles, glycogen serves as an immediate energy source for muscle contractions during intense physical activity. The ability to store and mobilize glycogen is essential for the proper functioning of various physiological processes, including athletic performance, glucose homeostasis, and overall metabolic health.

Oligosaccharides are complex carbohydrates composed of relatively small numbers (3-10) of monosaccharide units joined together by glycosidic linkages. They occur naturally in foods such as milk, fruits, vegetables, and legumes. In the body, oligosaccharides play important roles in various biological processes, including cell recognition, signaling, and protection against pathogens.

There are several types of oligosaccharides, classified based on their structures and functions. Some common examples include:

1. Disaccharides: These consist of two monosaccharide units, such as sucrose (glucose + fructose), lactose (glucose + galactose), and maltose (glucose + glucose).
2. Trisaccharides: These contain three monosaccharide units, like maltotriose (glucose + glucose + glucose) and raffinose (galactose + glucose + fructose).
3. Oligosaccharides found in human milk: Human milk contains unique oligosaccharides that serve as prebiotics, promoting the growth of beneficial bacteria in the gut. These oligosaccharides also help protect infants from pathogens by acting as decoy receptors and inhibiting bacterial adhesion to intestinal cells.
4. N-linked and O-linked glycans: These are oligosaccharides attached to proteins in the body, playing crucial roles in protein folding, stability, and function.
5. Plant-derived oligosaccharides: Fructooligosaccharides (FOS) and galactooligosaccharides (GOS) are examples of plant-derived oligosaccharides that serve as prebiotics, promoting the growth of beneficial gut bacteria.

Overall, oligosaccharides have significant impacts on human health and disease, particularly in relation to gastrointestinal function, immunity, and inflammation.

The enteric nervous system (ENS) is a part of the autonomic nervous system that directly controls the gastrointestinal tract, including the stomach, small intestine, colon, and rectum. It is sometimes referred to as the "second brain" because it can operate independently of the central nervous system (CNS).

The ENS contains around 500 million neurons that are organized into two main plexuses: the myenteric plexus, which lies between the longitudinal and circular muscle layers of the gut, and the submucosal plexus, which is located in the submucosa. These plexuses contain various types of neurons that are responsible for regulating gastrointestinal motility, secretion, and blood flow.

The ENS can communicate with the CNS through afferent nerve fibers that transmit information about the state of the gut to the brain, and efferent nerve fibers that carry signals from the brain back to the ENS. However, the ENS is also capable of functioning independently of the CNS, allowing it to regulate gastrointestinal functions in response to local stimuli such as food intake, inflammation, or infection.

Central nervous system (CNS) neoplasms refer to a group of abnormal growths or tumors that develop within the brain or spinal cord. These tumors can be benign or malignant, and their growth can compress or disrupt the normal functioning of surrounding brain or spinal cord tissue.

Benign CNS neoplasms are slow-growing and rarely spread to other parts of the body. However, they can still cause significant problems if they grow large enough to put pressure on vital structures within the brain or spinal cord. Malignant CNS neoplasms, on the other hand, are aggressive tumors that can invade and destroy surrounding tissue. They may also spread to other parts of the CNS or, rarely, to other organs in the body.

CNS neoplasms can arise from various types of cells within the brain or spinal cord, including nerve cells, glial cells (which provide support and insulation for nerve cells), and supportive tissues such as blood vessels. The specific type of CNS neoplasm is often used to help guide treatment decisions and determine prognosis.

Symptoms of CNS neoplasms can vary widely depending on the location and size of the tumor, but may include headaches, seizures, weakness or paralysis, vision or hearing changes, balance problems, memory loss, and changes in behavior or personality. Treatment options for CNS neoplasms may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

Alpha-N-Acetylgalactosaminidase (also known as alpha-GalNAcase) is an enzyme that belongs to the class of glycoside hydrolases. Its systematic name is N-acetyl-alpha-galactosaminide galactosaminohydrolase. This enzyme is responsible for catalyzing the hydrolysis of the terminal, non-reducing N-acetyl-D-galactosamine residues in gangliosides and glycoproteins.

Gangliosides are sialic acid-containing glycosphingolipids found in animal tissues, especially in the nervous system. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone.

Deficiency or dysfunction of alpha-N-Acetylgalactosaminidase can lead to various genetic disorders, such as Schindler and Kanzaki diseases, which are characterized by the accumulation of gangliosides and glycoproteins in lysosomes, leading to progressive neurological deterioration.

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.

Cathepsin A is a lysosomal protein that belongs to the peptidase family. It plays a role in various biological processes, including protein degradation and activation, cell signaling, and inflammation. Cathepsin A has both endopeptidase and exopeptidase activities, which allow it to cleave and process a wide range of substrates.

In addition to its enzymatic functions, cathepsin A also plays a structural role in the formation and stability of the protective protein complex called the "serglycin-cathepsin A proteoglycan complex." This complex protects certain proteases from degradation and helps regulate their activity within the lysosome.

Deficiencies or mutations in cathepsin A have been linked to several diseases, including a rare genetic disorder called galactosialidosis, which is characterized by developmental delays, coarse facial features, and progressive neurological deterioration.

Glycogen Storage Disease Type VIII, also known as Phosphorylase Kinase Deficiency, is a rare genetic metabolic disorder that affects the production and breakdown of glycogen in the body. Glycogen is a complex carbohydrate that serves as the primary form of energy storage in the body.

In this condition, there is a deficiency or dysfunction of the enzyme phosphorylase kinase (PhK), which plays a crucial role in activating glycogen phosphorylase, an enzyme responsible for breaking down glycogen into glucose-1-phosphate during periods of increased energy demand.

The deficiency or dysfunction of PhK leads to the abnormal accumulation of glycogen in various tissues, particularly in the liver and muscles. This accumulation can result in hepatomegaly (enlarged liver), hypoglycemia (low blood sugar levels), growth retardation, and muscle weakness.

Glycogen Storage Disease Type VIII is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene, one from each parent, to develop the condition. There are four subtypes of GSD Type VIII, classified based on the specific genetic mutation and the severity of symptoms.

Treatment for Glycogen Storage Disease Type VIII typically involves managing the symptoms and complications associated with the disorder, such as providing a high-carbohydrate diet to prevent hypoglycemia and addressing any liver or muscle dysfunction. Regular monitoring by a healthcare team experienced in metabolic disorders is essential for optimizing treatment and ensuring appropriate management of this complex condition.

Glucan 1,4-alpha-glucosidase, also known as amyloglucosidase or glucoamylase, is an enzyme that catalyzes the hydrolysis of 1,4-glycosidic bonds in starch and other oligo- and polysaccharides, breaking them down into individual glucose molecules. This enzyme specifically acts on the alpha (1->4) linkages found in amylose and amylopectin, two major components of starch. It is widely used in various industrial applications, including the production of high fructose corn syrup, alcoholic beverages, and as a digestive aid in some medical supplements.

Niemann-Pick Disease, Type A (NPD A) is a rare inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase (ASM). This enzyme defect results in the accumulation of lipids, particularly sphingomyelin and cholesterol, within various cells of the body, including brain cells, liver cells, and white blood cells.

The accumulation of these lipids leads to progressive damage to these organs, causing a range of symptoms such as an enlarged liver (hepatomegaly), anemia, jaundice, and neurological problems like developmental delay, seizures, loss of muscle tone, and difficulty with swallowing. NPD A is typically diagnosed in infancy or early childhood and is often fatal by around two to three years of age due to severe neurological complications. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.

Protein transport, in the context of cellular biology, refers to the process by which proteins are actively moved from one location to another within or between cells. This is a crucial mechanism for maintaining proper cell function and regulation.

Intracellular protein transport involves the movement of proteins within a single cell. Proteins can be transported across membranes (such as the nuclear envelope, endoplasmic reticulum, Golgi apparatus, or plasma membrane) via specialized transport systems like vesicles and transport channels.

Intercellular protein transport refers to the movement of proteins from one cell to another, often facilitated by exocytosis (release of proteins in vesicles) and endocytosis (uptake of extracellular substances via membrane-bound vesicles). This is essential for communication between cells, immune response, and other physiological processes.

It's important to note that any disruption in protein transport can lead to various diseases, including neurological disorders, cancer, and metabolic conditions.

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.

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.

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.

I'm sorry for any confusion, but "Food Storage" is not a term that has a specific medical definition. It generally refers to the practice of storing food supplies, often in large quantities and for extended periods of time. While it may have relevance to nutrition and food safety, it's not a term used within medical terminology. If you have any questions related to nutrition, food safety, or any other medical topic, I'd be happy to try to help answer those!

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.

The Autonomic Nervous System (ANS) is a part of the peripheral nervous system that operates largely below the level of consciousness and controls visceral functions. It is divided into two main subdivisions: the sympathetic and parasympathetic nervous systems, which generally have opposing effects and maintain homeostasis in the body.

The Sympathetic Nervous System (SNS) prepares the body for stressful or emergency situations, often referred to as the "fight or flight" response. It increases heart rate, blood pressure, respiratory rate, and metabolic rate, while also decreasing digestive activity. This response helps the body respond quickly to perceived threats.

The Parasympathetic Nervous System (PNS), on the other hand, promotes the "rest and digest" state, allowing the body to conserve energy and restore itself after the stress response has subsided. It decreases heart rate, blood pressure, and respiratory rate, while increasing digestive activity and promoting relaxation.

These two systems work together to maintain balance in the body by adjusting various functions based on internal and external demands. Disorders of the Autonomic Nervous System can lead to a variety of symptoms, such as orthostatic hypotension, gastroparesis, and cardiac arrhythmias, among others.

Sulfatases are a group of enzymes that play a crucial role in the metabolism of sulfated steroids, glycosaminoglycans (GAGs), and other sulfated molecules. These enzymes catalyze the hydrolysis of sulfate groups from these substrates, converting them into their respective unsulfated forms.

The human genome encodes for several different sulfatases, each with specificity towards particular types of sulfated substrates. For instance, some sulfatases are responsible for removing sulfate groups from steroid hormones and neurotransmitters, while others target GAGs like heparan sulfate, dermatan sulfate, and keratan sulfate.

Defects in sulfatase enzymes can lead to various genetic disorders, such as multiple sulfatase deficiency (MSD), X-linked ichthyosis, and mucopolysaccharidosis (MPS) type IIIC (Sanfilippo syndrome type C). These conditions are characterized by the accumulation of sulfated molecules in different tissues, resulting in progressive damage to multiple organs and systems.

Saposins are a group of naturally occurring lipid-binding proteins that play an essential role in the metabolism of lipids within cells. They are named after a skin disease called "Niemann-Pick disease," where defects in saposin function lead to an accumulation of lipids in various tissues, including the brain.

There are four types of saposins (SapA, SapB, SapC, and SapD) that are produced by the cleavage of a larger precursor protein called prosaposin. These proteins help to facilitate the breakdown of lipids in lysosomes, which are specialized organelles within cells that break down and recycle various materials.

Saposins play an important role in activating certain enzymes that are involved in breaking down lipids, such as sphingolipids and gangliosides. They do this by binding to these enzymes and presenting them with their lipid substrates in a way that allows the enzymes to efficiently break them down.

Defects in saposin function can lead to a variety of diseases, including Niemann-Pick disease, Gaucher disease, and Krabbe disease, which are characterized by an accumulation of lipids in various tissues and neurological symptoms.

Bone marrow transplantation (BMT) is a medical procedure in which damaged or destroyed bone marrow is replaced with healthy bone marrow from a donor. Bone marrow is the spongy tissue inside bones that produces blood cells. The main types of BMT are autologous, allogeneic, and umbilical cord blood transplantation.

In autologous BMT, the patient's own bone marrow is used for the transplant. This type of BMT is often used in patients with lymphoma or multiple myeloma who have undergone high-dose chemotherapy or radiation therapy to destroy their cancerous bone marrow.

In allogeneic BMT, bone marrow from a genetically matched donor is used for the transplant. This type of BMT is often used in patients with leukemia, lymphoma, or other blood disorders who have failed other treatments.

Umbilical cord blood transplantation involves using stem cells from umbilical cord blood as a source of healthy bone marrow. This type of BMT is often used in children and adults who do not have a matched donor for allogeneic BMT.

The process of BMT typically involves several steps, including harvesting the bone marrow or stem cells from the donor, conditioning the patient's body to receive the new bone marrow or stem cells, transplanting the new bone marrow or stem cells into the patient's body, and monitoring the patient for signs of engraftment and complications.

BMT is a complex and potentially risky procedure that requires careful planning, preparation, and follow-up care. However, it can be a life-saving treatment for many patients with blood disorders or cancer.

Antiporters, also known as exchange transporters, are a type of membrane transport protein that facilitate the exchange of two or more ions or molecules across a biological membrane in opposite directions. They allow for the movement of one type of ion or molecule into a cell while simultaneously moving another type out of the cell. This process is driven by the concentration gradient of one or both of the substances being transported. Antiporters play important roles in various physiological processes, including maintaining electrochemical balance and regulating pH levels within cells.

The sympathetic nervous system (SNS) is a part of the autonomic nervous system that operates largely below the level of consciousness, and it functions to produce appropriate physiological responses to perceived danger. It's often associated with the "fight or flight" response. The SNS uses nerve impulses to stimulate target organs, causing them to speed up (e.g., increased heart rate), prepare for action, or otherwise respond to stressful situations.

The sympathetic nervous system is activated due to stressful emotional or physical situations and it prepares the body for immediate actions. It dilates the pupils, increases heart rate and blood pressure, accelerates breathing, and slows down digestion. The primary neurotransmitter involved in this system is norepinephrine (also known as noradrenaline).

Galactosylceramidase (galactocerebrosidase) is an enzyme that breaks down a fatty substance called galactosylceramide, which is found in myelin – the protective covering of nerve fibers in the brain. This enzyme plays a crucial role in the maintenance and functioning of the nervous system.

Deficiency of galactosylceramidase leads to the accumulation of galactosylceramide in the lysosomes (membrane-bound organelles responsible for breaking down waste materials within cells), resulting in an inherited metabolic disorder known as Krabbe disease or globoid cell leukodystrophy. This rare and progressive neurological condition affects the development and maintenance of myelin, causing severe damage to the nervous system and leading to motor, cognitive, and sensory impairments, ultimately resulting in early death if left untreated.

'Nervous system physiological phenomena' refer to the functions, activities, and processes that occur within the nervous system in a healthy or normal state. This includes:

1. Neuronal Activity: The transmission of electrical signals (action potentials) along neurons, which allows for communication between different cells and parts of the nervous system.

2. Neurotransmission: The release and binding of neurotransmitters to receptors on neighboring cells, enabling the transfer of information across the synapse or junction between two neurons.

3. Sensory Processing: The conversion of external stimuli into electrical signals by sensory receptors, followed by the transmission and interpretation of these signals within the central nervous system (brain and spinal cord).

4. Motor Function: The generation and execution of motor commands, allowing for voluntary movement and control of muscles and glands.

5. Autonomic Function: The regulation of internal organs and glands through the sympathetic and parasympathetic divisions of the autonomic nervous system, maintaining homeostasis within the body.

6. Cognitive Processes: Higher brain functions such as perception, attention, memory, language, learning, and emotion, which are supported by complex neural networks and interactions.

7. Sleep-Wake Cycle: The regulation of sleep and wakefulness through interactions between the brainstem, thalamus, hypothalamus, and basal forebrain, ensuring proper rest and recovery.

8. Development and Plasticity: The growth, maturation, and adaptation of the nervous system throughout life, including processes such as neuronal migration, synaptogenesis, and neural plasticity.

9. Endocrine Regulation: The interaction between the nervous system and endocrine system, with the hypothalamus playing a key role in controlling hormone release and maintaining homeostasis.

10. Immune Function: The communication between the nervous system and immune system, allowing for the coordination of responses to infection, injury, or stress.

Chondroitin sulfatases are a group of enzymes that break down chondroitin sulfate, which is a type of glycosaminoglycan (GAG) found in connective tissues such as cartilage, bone, and skin. Glycosaminoglycans are long, complex chains of sugars that help provide structure, hydration, and elasticity to these tissues.

Chondroitin sulfate is composed of alternating units of glucuronic acid and N-acetylgalactosamine, with various sulfate groups attached at different positions along the chain. Chondroitin sulfatases cleave specific bonds within this structure to help regulate the turnover and remodeling of GAGs in tissues.

There are several types of chondroitin sulfatases (designated as chondroitin sulfatase A, B, C, D, etc.), each with distinct substrate specificities and cellular localizations. Defects in these enzymes can lead to various genetic disorders, such as skeletal dysplasias and neurodegenerative diseases, due to the accumulation of unprocessed or partially degraded chondroitin sulfate in tissues.

A liver cell adenoma is a benign tumor that develops in the liver and is composed of cells similar to those normally found in the liver (hepatocytes). These tumors are usually solitary, but multiple adenomas can occur, especially in women who have taken oral contraceptives for many years. Liver cell adenomas are typically asymptomatic and are often discovered incidentally during imaging studies performed for other reasons. In rare cases, they may cause symptoms such as abdominal pain or discomfort, or complications such as bleeding or rupture. Treatment options include monitoring with periodic imaging studies or surgical removal of the tumor.

Amylopectin is a type of complex carbohydrate molecule known as a polysaccharide. It is a component of starch, which is found in plants and is a major source of energy for both humans and other animals. Amylopectin is made up of long chains of glucose molecules that are branched together in a bush-like structure.

Amylopectin is composed of two types of glucose chain branches: outer chains, which are made up of shorter, highly branched chains of glucose molecules; and inner chains, which are made up of longer, less branched chains. The branching pattern of amylopectin allows it to be digested and absorbed more slowly than other types of carbohydrates, such as simple sugars. This slower digestion and absorption can help to regulate blood sugar levels and provide sustained energy.

Amylopectin is found in a variety of plant-based foods, including grains, legumes, vegetables, and fruits. It is an important source of calories and energy for humans and other animals that consume these types of plants as part of their diet.

Sphingolipid activator proteins (SAPs), also known as saposins, are a group of small proteins that play a crucial role in the metabolism of sphingolipids, a class of lipids found in cell membranes. These proteins are produced by the cleavage of a precursor protein called prosaposin.

SAPs facilitate the hydrolysis of sphingolipids by activating specific lysosomal hydrolases, enzymes that break down these lipids into simpler molecules. Each SAP has a unique structure and function, and they are named SapA, SapB, SapC, and SapD.

SapA and SapB activate the enzyme glucocerebrosidase, which breaks down glucosylceramide into glucose and ceramide. SapC activates the enzyme galactocerebrosidase, which breaks down galactosylceramide into galactose and ceramide. SapD has multiple functions, including activating the enzyme acid sphingomyelinase, which breaks down sphingomyelin into ceramide and phosphorylcholine.

Deficiencies in SAPs can lead to lysosomal storage disorders, such as Gaucher disease (caused by a deficiency in glucocerebrosidase) and Krabbe disease (caused by a deficiency in galactocerebrosidase). These disorders are characterized by the accumulation of undigested sphingolipids in various tissues, leading to cell dysfunction and tissue damage.

This treatment is often used to treat the central nervous system of patients with some lysosomal storage diseases. Protein ... ERT is available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI ... Lysosomal storage diseases are a group of diseases and a main application of ERT. Lysosomes are cellular organelles that are ... ERT is not a cure for lysosomal storage diseases, and it requires lifelong IV infusions of the therapeutic enzyme. This ...
... of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases". Cell ... a glial effector cell that reconstructs the Central nervous system after a bone marrow transplant Fibroblast, a cell that is ... an effector B cell in the immune system Effector T cells, T cells that actively respond to a stimulus Cytokine-induced killer ...
Along with many other lysosomal storage diseases, MPS-III exists as a model of a monogenetic disease involving the central ... Syndromes affecting the nervous system, Rare syndromes, Diseases named for discoverer). ... 1999). "The frequency of lysosomal storage diseases in The Netherlands". Hum. Genet. 105 (1-2): 151-6. doi:10.1007/ ... is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a ...
... including lysosomal storage diseases and multisystem diseases, most of which involve the nervous system. N-linked glycans can ... Rhodes J, Campbell BJ, Yu LG (2001). "Glycosylation and Disease". Encyclopedia of Life Sciences. John Wiley & Sons, Inc. doi: ... Biologically, deficiencies in endoglycosidases can lead to several diseases, ...
Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders. Many lipid ... peripheral nervous system, liver, spleen, and bone marrow. Inside cells under normal conditions, lysosomes convert, or ... Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease, ... Schindler disease, and Wolman disease. Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs ...
... is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves ... The disease is named after the Danish neurologist Knud Krabbe (1885-1961). Symptoms in asymptomatic infantile-onset (. ... Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) ...
... lysosomal storage diseases, nervous system MeSH C10.228.140.163.100.435.295 - fucosidosis MeSH C10.228.140.163.100.435.340 - ... central nervous system MeSH C10.228.140.300.850.125 - aids arteritis, central nervous system MeSH C10.228.140.300.850.250 - ... central nervous system MeSH C10.500.190.600 - central nervous system venous angioma MeSH C10.500.190.800 - sinus pericranii ... nervous system MeSH C10.720.475.400.350 - lead poisoning, nervous system, adult MeSH C10.720.475.400.700 - lead poisoning, ...
... cholesterol ester storage disease MeSH C18.452.648.595.554 - lysosomal storage diseases, nervous system MeSH C18.452.648.595. ... lysosomal storage diseases, nervous system MeSH C18.452.100.100.435.295 - fucosidosis MeSH C18.452.100.100.435.340 - glycogen ... lysosomal storage diseases, nervous system MeSH C18.452.648.151.435.295 - fucosidosis MeSH C18.452.648.151.435.340 - glycogen ... glycogen storage disease type I MeSH C18.452.648.202.449.500 - glycogen storage disease type II MeSH C18.452.648.202.449.510 - ...
... cholesterol ester storage disease MeSH C16.320.565.580.554 - lysosomal storage diseases, nervous system MeSH C16.320.565.580. ... lysosomal storage diseases, nervous system MeSH C16.320.565.150.435.295 - fucosidosis MeSH C16.320.565.150.435.340 - glycogen ... glycogen storage disease type I MeSH C16.320.565.202.449.500 - glycogen storage disease type II MeSH C16.320.565.202.449.510 - ... glycogen storage disease type IV MeSH C16.320.565.202.449.560 - glycogen storage disease type V MeSH C16.320.565.202.449.580 - ...
... lysosomal storage diseases, and other inherited metabolic diseases. Maria Luisa Escolar earned a medical degree at Escuela ... Holt J, Poe MD, Escolar ML (Aug 2011). "Early clinical markers of central nervous system involvement in mucopolysaccharidosis ... Successful management of disease symptoms in this patient led to referrals of other children with lysosomal storage disorders ... To assess neurodevelopmental changes in children with lysosomal storage diseases and related disorders, Escolar and the NDRD ...
This inherited disease is characterized by the accumulation of lipid-containing cells in the viscera and in the nervous system ... Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta- ... Lipid storage disorders, Neurodegenerative disorders, Rare diseases, Diseases named for discoverer). ... Sandhoff disease symptoms are clinically indeterminable from Tay-Sachs disease. The classic infantile form of the disease has ...
Accumulation of sulfatide can cause metachromatic leukodystrophy, a lysosomal storage disease and may be caused because of a ... Sulfatide also plays a role in several physiological processes and systems, including the nervous system, the immune system, ... Sulfatide participates in many biological systems and functions, including the nervous system, the immune system, and in ... nervous system and is found in high levels in the myelin sheath in both the peripheral nervous system and the central nervous ...
... there can be increased efficacy of lysosomal targeting and better delivery to the central nervous system through the blood ... This has been of particular interest in the development of therapeutics for lysosomal storage disease. Proper delivery of these ... strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases". ... Another treatment is cancer immunotherapy, which directs the immune system to attack tumor cells expressing the targeted ...
... (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as ... Without it, the nerves in the brain (central nervous system - CNS) and the peripheral nerves (peripheral nervous system - PNS) ... which may slow down the progression of the disease in the central nervous system.[citation needed] However, results in the ... Zacharon has begun adapting the assays it developed for other lysosomal storage diseases so that they can be employed to ...
... liver and the nervous system. The infantile form usually comes to medical attention within the first few months of life. The ... GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was ... "Type II Glycogen Storage Disease". The Association for Glycogen Storage Disease. Archived from the original on June 23, 2012. ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Understanding Pompe Disease - US National Institute ...
Lysosomal storage disease Niemann-Pick disease, type C Gaucher's disease Medical genetics of Ashkenazi Jews "Niemann-Pick". ... but their central nervous system is profoundly affected. Niemann-Pick disease, SMPD1-associated, which includes types A and B ... They can be considered as a kind of sphingolipidosis, which is included in the larger family of lysosomal storage diseases. ... Type C is the most common form of the disease Type C2 is a rare form of the disease. Niemann-Pick disease type D (or Nova ...
... is a lysosomal storage disease due to impaired degradation of heparan sulfate. MPS III includes 4 types, each due to the ... The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of ... Molecular Basis of Disease. 1501 (1): 1-11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844. van de Kamp JJ, Niermeijer MF, ... Molecular Basis of Disease. 1501 (1): 1-11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844. Chabás A, Montfort M, Martínez- ...
... is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, ... including but not limited to the nervous system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of ... All members of the mucopolysaccharidosis family are also lysosomal storage diseases. Mucopolysaccharidosis type I (MPS I) is ... The Storage Disease Collaborative Study Group". Blood. 91 (7): 2601-8. doi:10.1182/blood.V91.7.2601. PMID 9516162. Staba SL, ...
Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular ... and deterioration of the nervous system Nasodigitoacoustic syndrome; misshaped nose, brachydactyly of the distal phalanges, ... Charcot-Marie-Tooth disease (CMTX2-3); disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch ... "Diseases Treated at St. Jude". stjude.org. Archived from the original on 15 August 2007. Retrieved 3 May 2018. "Favism - Doctor ...
Lysosomal Storage Diseases Chapter 412: Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism ... Pathobiology of Neurologic Diseases Section 2: Diseases of the Central Nervous System Chapter 418: Seizures and Epilepsy ... Prion Diseases Chapter 431: Ataxic Disorders Chapter 432: Disorders of the Autonomic Nervous System Chapter 433: Trigeminal ... The Immune System in Health and Disease Chapter 342: Introduction to the Immune System Chapter 343: The Major ...
... autoimmune disorders involve damage caused by the body's own immune system; lysosomal storage diseases such as Niemann-Pick ... The broadest division is between central nervous system disorders and peripheral nervous system disorders. The Merck Manual ... Central nervous system European Brain Council Human brain Mental disorder Neuroplasticity Peripheral nervous system Proctalgia ... Neuropsychiatry deals with mental disorders arising from specific identified diseases of the nervous system.[citation needed] ...
Enzyme replacement therapy (ERT) is a therapeutic alternative in a number of lysosomal storage diseases. The overall principle ... This is the most common form Type 3: A severe form, leading to early death from progressive central nervous system involvement ... Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known ... The main symptoms can also be shared with those of other lysosomal storage disorders, such as mucopolysaccharidosis. Given the ...
November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2 ... Central nervous system dysfunction and extensive skeletal anomalies suggest a role for Phosphatidylinositol 3,5-bisphosphate, ... November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2 ... November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2 ...
Wolman also studied chemical factors underlying various impregnation procedures for the nervous system. He was also involved in ... that was later named after him is known as lysosomal acid lipase deficiency or Wolman disease, is caused by accumulation in ... of the chemistry involved in histological techniques enabled Moshe Wolman in the 1950s to determine that the storage disease, ... He is considered one of the fathers of histochemistry.[citation needed] In 1954, he described Wolman's disease. Moshe Wolman ...
Respiratory disease, e.g. lung infections, labored breathing, respiratory distress Central nervous system disease, e.g. ... autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is ... Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease ... Siblings of individuals with Farber disease have a 25% chance to also have Farber disease, a 50% chance to be a carrier like ...
It belongs to the larger family of metabolic disorders called lysosomal storage diseases, in which fats build up within the ... Olipudase alfa, sold under the brand name Xenpozyme, is a medication used for the treatment of non-central nervous system (CNS ... and by the US Food and Drug Administration for the treatment of non-central nervous system manifestations of acid ... disease signs and symptoms in children). Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), ASMD ...
Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive ... This results from compression of nerves or nerve roots in the spinal cord or in the peripheral nervous system, the part of the ... The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that ... 1999). "The frequency of lysosomal storage diseases in The Netherlands". Human Genetics. 105 (1-2): 151-6. doi:10.1007/ ...
It mainly affects the nervous system and it is caused by a lysosomal storage irregularity which comes from a deficit of a ... "Salla disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". "Free sialic acid storage disease". ... Some severe diseases can depend on the presence or absence of some enzymes related to the sialic acid metabolism. Sialidosis ... In bacterial systems, sialic acids can be also biosynthesized by an aldolase. This enzyme uses for example a mannose derivative ...
Defects in human α-GAL result in Fabry disease, a rare lysosomal storage disorder and sphingolipidosis that results from a ... heart and nervous system. As a result, signs and symptoms of Fabry disease begin to manifest. There are three treatment options ... This disease may have late onset and only affect the heart or kidneys. Fabry disease is an X-linked disease, affecting 1 in ... "Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases". The Journal of ...
It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2- ... It has traditionally been categorized as either "mild" or "severe" depending on the presence of central nervous system symptoms ... The continued storage of GAGs leads to abnormalities in multiple organ systems. After 18 months, children with severe MPS II ... These skin lesions are considered pathognomonic for the disease. Finally, the storage of GAGs in the brain can lead to delayed ...
Lysosomal Storage Diseases, Nervous System*Lysosomal Storage Diseases, Nervous System. *Lysosomal Enzyme Disorders, Nervous ... "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous ... Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... "Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicines controlled vocabulary ...
This treatment is often used to treat the central nervous system of patients with some lysosomal storage diseases. Protein ... ERT is available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI ... Lysosomal storage diseases are a group of diseases and a main application of ERT. Lysosomes are cellular organelles that are ... ERT is not a cure for lysosomal storage diseases, and it requires lifelong IV infusions of the therapeutic enzyme. This ...
... and central nervous system dysfunction may result. Classically, lysosomal storage diseases encompassed only enzyme deficiencies ... Classification of Lysosomal Storage Diseases. More than 50 lysosomal storage diseases have been described. They are classified ... encoded search term (Lysosomal Storage Disease) and Lysosomal Storage Disease What to Read Next on Medscape ... yet non-neuronopathic forms of lysosomal storage disease exist. Lysosomal storage diseases may result in a severe ...
Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... Lysosomal Storage Diseases [C16.320.565.595]. *Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554] ... Lysosomal Storage Diseases [C18.452.648.595]. *Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554] ... "Niemann-Pick Diseases" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ...
Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... Lysosomal Storage Diseases [C16.320.565.595]. *Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554] ... Lysosomal Storage Diseases [C18.452.648.595]. *Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554] ... "Gaucher Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ...
Lysosomal Storage Diseases. Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, ... Neurons of the central nervous system are particularly susceptible to damage. Most of these diseases are caused by the ... However, one lysosomal storage disease, I-cell disease ("inclusion-cell disease"), is caused by a failure to "tag" (by ... Tay-Sachs disease and Gauchers disease - both caused by a failure to produce an enzyme needed to break down sphingolipids ( ...
Stuches of veatment for lysosomal storage diseases in volving central nervous system lesions-model mouse study-Principal ... Study of lysosomal storage disease-intracellular signaling and apoptosis. *. Principal Investigator. INUI Koji ... Studies of pathogenesis in Farber disease-cloning of the DNA and study of signal transduction system. *. Principal Investigator ... Studiy of effectiveness of gene therapy in lysosomnal storage diseasePrincipal Investigator. *. Principal Investigator. OKADA ...
Fabry disease is an X-linked lysosomal storage disorder in which the peripheral nervous system can be affected, presenting as ... Activating the sympathetic nervous system which causes vasoconstriction of skin arterioles, causing blood to bypass the skin ... Heat Stroke is a temperature ,40°C (104°F) accompanied by dry, hot skin and central nervous system abnormalities such as ... The exact pathophysiology is still unclear but is thought to be related to the dysfunction of the autonomic nervous system seen ...
Niemann-Pick disease type C (NP-C) is a progressive, life-limiting neurological lysosomal storage disorder caused by mutations ... in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. These ... GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the ... developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 ...
Gangliosidosis, also known as lysosomal storage disease, is a genetic condition that occurs when Korats dont have the enzymes ... to properly run their nervous system.. That then leads to a breakdown of neurological function and manifests in symptoms such ... Heart Disease. Korats are susceptible to heart disease as well. The genetic condition, which is found across the breed, is not ... Dental Disease. As clean as cats are, they do not take care of their teeth. Many breeds develop dental issues throughout their ...
The 19th century saw the first systemic approach to disease through the use of rational, consistent outlines for taking ... The field of inherited disorders of the nervous system has undergone major revolutions in the past 150 years. ... Huntington chorea a much better-known example in inherited diseases of the CNS. Many genetic diseases of the nervous system can ... lysosomal storage diseases, disorders of fatty acid metabolism, and mitochondrial disorders. Most, but not all, of these ...
... to various models of storage disease reversed CNS deficits and improved life span and continue to develop novel vector systems ... Our research on childhood onset neurodegenerative diseases is focused on better understanding the biochemistry and cell biology ... The lab is investigating recessive, childhood-onset neurodegenerative diseases, such as the lysosomal storage diseases ... Research in the Davidson Laboratory is focused on inherited genetic diseases that cause central nervous system dysfunction. ...
Reimer specializes in treatment of lysosomal storage disorders that affect the nervous system. He has been practicing as a ... Salla disease and infantile sialic acid storage disease are autosomal recessive lysosomal storage disorders caused by mutations ... Salla disease and infantile sialic acid storage disorder are human diseases caused by loss of function of sialin, a lysosomal ... As a model for LSDs we are studying the lysosomal free sialic acid storage disorders. These diseases are the result of a defect ...
1. Genome Editing for Central Nervous System Diseases. 2. Vector Engineering: Altering Biodistribution of AAV9 via Targeted ... Translational research efforts are ongoing in his laboratory across a portfolio of lysosomal storage diseases, ... prove instrumental in the development of new AAV-based therapies for genetic diseases which affect the central nervous system. ... and central nervous system metastases located beyond the blood-brain barrier (9). Novel applications of the AAV platform ...
ASMD is a lysosomal storage disease that results from reduced activity of the enzyme acid sphingomyelinase (ASM), caused by ... Olipudase alfa is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults ... Drugs & Diseases , Medscape , FDA Drug Approvals FDA Approvals, Highlights, and Summaries: Endocrinology, Diabetes, and ... ASM deficiency causes intra-lysosomal accumulation of sphingomyelin (and cholesterol and other cell membrane lipids) in various ...
Prosaposin (PSAP) variants are linked to Parkinsons disease (PD). Here, the authors report PSP changes in PD and lipid ... modulates glycosphingolipid metabolism and variants have been linked to Parkinsons disease (PD). Here, we find altered PSAP ... Breiden, B. & Sandhoff, K. Lysosomal glycosphingolipid storage diseases. Annu. Rev. Biochem. 88, 461-485 (2019). ... The protective role of prosaposin and its receptors in the nervous system. Brain Res. 1585, 1-12 (2014). ...
... rare disease CRO has many years of experience conducting global clinical trials and orphan disease clinical research through ... Nervous System Disorders. *Amyotrophic Lateral Sclerosis. *Batten Disease. *Charcot-Marie-Tooth Disease ... Lysosomal Storage Disorder. *Mucopolysaccharidosis. *Niemann-Pick Disease. *Phenylketonuria. *Tyrosinemia. *Adrenal ... Personalized rare disease clinical development.. The standard approaches used in large-scale studies often dont apply to the ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM ENFERMEDADES POR ALMACENAMIENTO LISOSOMICO DEL SISTEMA NERVIOSO DOENÇAS POR ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRAUMA, NERVOUS SYSTEM TRAUMA DEL SISTEMA NERVIOSO TRAUMA DO SISTEMA NERVOSO TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO TROCLEAR TUBERCULOSIS, CENTRAL NERVOUS SYSTEM ...
  • Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, polysaccharides, lipids) in the lysosomes because of a genetic failure to manufacture an enzyme needed for their breakdown. (biology-pages.info)
  • However, one lysosomal storage disease, I-cell disease ("inclusion-cell disease"), is caused by a failure to "tag" (by phosphorylation) all the hydrolytic enzymes that are supposed to be transported from the Golgi apparatus to the lysosomes. (biology-pages.info)
  • Several degenerative diseases designated as lysosomal storage disorders (LSDs) are associated with the accumulation of material within lysosomes. (stanford.edu)
  • In cell culture, HP-b-CD ameliorates cholesterol storage in endo/lysosomes, a hallmark of the disorder. (bvsalud.org)
  • Niemann-Pick type C1 (NP-C1) is a lysosomal storage disease (LSD) caused by mutations in NPC1 gene that lead to defective synthesis of the respective lysosomal transporter protein and cholesterol accumulation in late endosomes/lysosomes (LE/L) compartments, as well as glycosphingolipids GM2 and GM3 in the central nervous system (CNS). (bvsalud.org)
  • Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
  • Lysosomes play a central role in cellular homeostasis and alterations in this compartment associate with many diseases. (ibecbarcelona.eu)
  • Because reticuloendothelial cells (eg, in the spleen) are rich in lysosomes, reticuloendothelial tissues are involved in a number of lysosomal storage disorders, but, generally, tissues richest in the substrate are most affected. (msdmanuals.com)
  • Enzyme deficiencies that prevent glycosaminoglycan breakdown cause accumulation of glycosaminoglycan fragments in lysosomes and cause extensive bone, soft tissue, and central nervous system changes. (msdmanuals.com)
  • Tay-Sachs disease, Neimann-Pick disease and Gaucher disease are some of the more common LSDs. (stanford.edu)
  • As a model for LSDs we are studying the lysosomal free sialic acid storage disorders. (stanford.edu)
  • Lysosomal storage diseases (LSDs) often manifest with severe systemic and central nervous system (CNS) symptoms. (ox.ac.uk)
  • HSP70 treatment reversed lysosomal pathology in primary fibroblasts from 14 patients with eight different LSDs. (ox.ac.uk)
  • Oral administration of arimoclomol, a small-molecule coinducer of HSPs that is currently in clinical trials for Niemann-Pick disease type C (NPC), recapitulated the effects of recombinant human HSP70, suggesting that heat shock protein-based therapies merit clinical evaluation for treating LSDs. (ox.ac.uk)
  • The research goal of the Pan Laboratory is to combine translational and basic research on virus-mediated, in vivo and ex vivo, gene transfer into stem cells, as well as their potential application for gene therapy of patients with lysosomal storage diseases (LSDs). (cincinnatichildrens.org)
  • The Pan Lab particularly focuses, among more than 50 LSDs, on the mucopolysaccharidoses (MPS) disorders , where the manifestations in the central nervous system (CNS) remain untreatable, largely due to the impermeability of the blood-brain barrier (BBB) to large molecules including lysosomal enzymes. (cincinnatichildrens.org)
  • Lysosomal storage diseases (LSDs) are a set of inborn errors of metabolism characterized by deficiencies in acid hydrolases that lead to substrate accumulation in cells and decreased or absent formation of downstream products. (trincoll.edu)
  • in the second, the authors used primary fibroblasts from patients with various LSDs such as Niemann-Pick's, Tay-Sachs's, and Sandhoff's diseases. (alzforum.org)
  • Prior studies demonstrated that encapsulation in poly(lactic-co-glycolic acid) (PLGA) nanoparticles (NPs) enhanced the delivery of enzymes used for replacement therapy (ERT) of lysosomal storage disorders (LSDs). (ibecbarcelona.eu)
  • The most studied example is that of lysosomal storage disorders (LSDs), a group of 60 + maladies due to genetic mutations affecting lysosomal components, mostly enzymes. (ibecbarcelona.eu)
  • Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
  • An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. (umassmed.edu)
  • GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the accumulation of GM1 or GM2 gangliosides, respectively, in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. (dutchnews.nl)
  • ASM deficiency causes intra-lysosomal accumulation of sphingomyelin (and cholesterol and other cell membrane lipids) in various tissues. (medscape.com)
  • Parkinson's disease (PD) is a progressive neurodegenerative disorder featured by dopaminergic neuronal loss in the substantia nigra pars compacta (SNc) and accumulation of intracellular α-synuclein (α-syn)-containing Lewy bodies 1 . (nature.com)
  • Lysosomal storage disorders are inherited metabolic diseases that feature an abnormal accumulation of various toxic materials in cells because of enzyme deficiencies. (fabrydiseasenews.com)
  • While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. (mpssociety.org)
  • Niemann Pick type C is an inborn error of metabolism (IEM), classified as a lysosomal storage disease (LSD) caused by a dysfunction in NPC transport protein, that leads to intracellular accumulation of non-esterified cholesterol and other lipids. (bvsalud.org)
  • HSP70 penetrated effectively into murine tissues including the CNS and inhibited glycosphingolipid accumulation in murine models of Fabry disease (Gla(-/-)), Sandhoff disease (Hexb(-/-)), and Niemann-Pick disease type C (Npc1(-/-)) and attenuated a wide spectrum of disease-associated neurological symptoms in Hexb(-/-) and Npc1(-/-) mice. (ox.ac.uk)
  • Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
  • This is why the treatment for the treatment of accumulation diseases in cats is limited to stabilizing the condition of the animal, to avoiding dehydration and the hypoglycemia of glycogenosis. (petlifey.com)
  • 3 A deficiency in the enzymes responsible for metabolizing gangliosides causes toxic levels of ganglioside accumulation which is indicative of several lysosomal storage diseases, including GM 1 gangliosidosis, GM 2 gangliosidosis, Tay-Sachs disease, and Sandhoff disease. (matreya.com)
  • The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. (nih.gov)
  • As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. (pawprintgenetics.com)
  • As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. (pawprintgenetics.com)
  • Gaucher disease (GD) is characterized by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in the accumulation of sphingolipids throughout the body but most manifesting prominently in the bones. (scientiacme.org)
  • Mutations in the CTNS gene, encoding a lysosomal cystine transporter, lead to cystine accumulation and multi-organ failure such as end stage renal failure, blindness, myopathy, diabetes and central nervous system defects. (ucsd.edu)
  • Inherited defects or deficiencies of lysosomal enzymes (or other lysosomal components) can result in accumulation of undegraded metabolites. (msdmanuals.com)
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
  • Most of these diseases are caused by the inheritance of two defective alleles of the gene encoding one of the hydrolytic enzymes. (biology-pages.info)
  • Gangliosidosis, also known as lysosomal storage disease , is a genetic condition that occurs when Korats don't have the enzymes to properly run their nervous system. (cyberpet.com)
  • Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. (mpssociety.org)
  • These disorders include numerous dozen rare, inherited genetic diseases marked by the deficiency of specific enzymes which the body requires in order to break down and get rid of metabolic byproducts of energy production. (healthjockey.com)
  • The loss of acidity would shut down or dampen lysosomal enzymes, causing autophagy to grind to a halt. (alzforum.org)
  • Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. (msdmanuals.com)
  • This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)
  • Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
  • Data from the Human Genome Project surely will be useful in identifying mutations in the thousands of genes that must underlie inherited diseases of the central and peripheral nervous system. (medscape.com)
  • Genetic data also will be useful in identifying mutations and polymorphisms that predispose to some of the acquired diseases of the nervous system, some of which are discussed in this article. (medscape.com)
  • Until the genes and their mutations that underlie neurological disease are characterized, inherited disorders have to be defined the way clinicians have been classifying disease over the last 2 centuries. (medscape.com)
  • These diseases are the result of a defect in transport of sialic acid across lysosomal membranes and are associated with mutations in the gene encoding the sialic acid transporter sialin. (stanford.edu)
  • Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, which provides instructions to produce the alpha-galactosidase A (Gal A) enzyme. (fabrydiseasenews.com)
  • Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
  • Mutations affecting the eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, the autosomal recessive childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter disease (VWM). (medlink.com)
  • His research efforts and novel technology have contributed to successful clinical programs of in vivo gene therapy for rare monogenic diseases developed by other companies, including Glybera® for familial lipoprotein lipase deficiency (AAV1), Luxturna® for RPE65-mediated retinal dystrophy (AAV2), and Zolgensma® for spinal muscular atrophy (AAV9). (upenn.edu)
  • Olipudase alfa is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults and children. (medscape.com)
  • ARSA deficiency results in metachromatic leukodystrophy (MLD), a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms (2). (bio-techne.com)
  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
  • Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)
  • Mucolipidosis type IV (ML IV) also known as ganglioside sialidase deficiency and sialolipidosis, is an inherited lysosomal storage disease, belonging to the group of oligosaccharidosis that affects many organs and tissues, including the nervous system. (mpssociety.org.uk)
  • Molecules like ISRIB (integrated stress response inhibitor) correct the eIF2B deficiency in most mutants and are likely to be tried as therapy for central nervous system hypomyelination/vanishing white matter disease. (medlink.com)
  • Gaucher's disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in 20,000 live births. (medscape.com)
  • Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. (cdc.gov)
  • A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. (umassmed.edu)
  • Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)
  • Niemann-P ick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases . (radiopaedia.org)
  • MPS I is an autosomal recessive disease this means that both parents must carry the same affected gene and each pass this same affected gene to their child. (mpssociety.org.uk)
  • Neuronal ceroid lipofuscinosis 5 is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
  • Cystinosis is an autosomal metabolic disease belonging to the family of lysosomal storage disorders. (ucsd.edu)
  • FRDA is an autosomal recessive mitochondrial disease characterized by neurodegeneration, cardiomyopathy and muscle weakness and patients will be in wheelchair within 10-15 years of onset. (ucsd.edu)
  • In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
  • Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
  • Niemann-Pick, type C (NPC) is a fatal, neurovisceral lysosomal storage disorder with progressive neurodegeneration and no FDA-approved therapy. (bvsalud.org)
  • Type 2 glycogenosis is a lysosomal storage disorder, but most glycogenoses are not. (msdmanuals.com)
  • Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
  • The lab is investigating recessive, childhood-onset neurodegenerative diseases, such as the lysosomal storage diseases mucopolysaccharidoses and Battens disease. (chop.edu)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). (levislifelovelaughter.org)
  • Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. (chop.edu)
  • She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies. (chop.edu)
  • such work may prove instrumental in the development of new AAV-based therapies for genetic diseases which affect the central nervous system. (upenn.edu)
  • Dr. Wilson aims to expand gene therapy to also treat acquired diseases and other conditions, such as deploying AAV-based therapies to treat influenza (8) and central nervous system metastases located beyond the blood-brain barrier (9). (upenn.edu)
  • Chiesi Global Rare Diseases and Aliada Therapeutics are teaming up to advance a blood-brain barrier (BBB) crossing platform technology to deliver therapies for lysosomal storage disorders, including Fabry disease . (fabrydiseasenews.com)
  • Results from animal studies show the promise of these therapies to treat Krabbe, Fabry, and Gaucher disease. (trincoll.edu)
  • Abeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing gene and cell therapies for serious diseases. (abeonatherapeutics.com)
  • New therapies that circumvent this barrier and target brain disease in MPS are currently under development. (nih.gov)
  • The clinical trial is being conducted in Brazil and the US and will evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics across two doses of its lead asset, AZ-3102, in patients with GM2 gangliosidosis and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
  • In 2022, the compound received Fast Track Designation for GM1 and GM2 gangliosidoses as well as NP-C and Orphan Drug Designations (ODD) for GM2 gangliosidosis (Sandhoff and Tay-Sachs Diseases) and NP-C from the FDA. (dutchnews.nl)
  • This can result in a variety of symptoms, many of which are severe and can affect the skeleton, brain, skin, heart, and the central nervous system. (wikipedia.org)
  • For this reason, many symptoms of lysosomal storage diseases remain untreated by ERT, especially neurological symptoms. (wikipedia.org)
  • The major symptoms of Bloom's syndrome are short stature, low birth weight, immune system deficiencies, poor appetitive and esophageal reflux. (forward.com)
  • While the symptoms of the diseases may vary from one syndrome to another, there are similarities. (mpssociety.org)
  • this build-up causes the symptoms of Fabry disease. (mountsinai.org)
  • Late-Onset Fabry disease manifests in adulthood and usually lacks the classic symptoms such as acroparasthesias and angiokeratomas, and mainly affects the kidney and the heart. (mountsinai.org)
  • The symptoms in females with Classic and Late-Onset Fabry disease (also known as "heterozygotes")vary. (mountsinai.org)
  • Females may have mild symptoms of the disease or the disease may present more severe as in males. (mountsinai.org)
  • The goal of treatment is to slow disease progression and improve Fabry symptoms. (mountsinai.org)
  • Substrate buildup can result in a wide range of symptoms affecting multiple peripheral organ systems and the central nervous system. (trincoll.edu)
  • Children with this disease have symptoms that get worse over time. (medlineplus.gov)
  • It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
  • There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease. (nih.gov)
  • Babies may show little sign of the disease but as more and more cells build-up of partially broken down mucopolysaccharides, symptoms start to appear. (mpssociety.org.uk)
  • The lab's research on childhood onset neurodegenerative diseases is focused on experiments to better understand the biochemistry and cell biology of proteins deficient in these disorders, and to develop small molecule- or gene therapy-based strategies for therapy. (chop.edu)
  • Translational research efforts are ongoing in his laboratory across a portfolio of lysosomal storage diseases, neurodegenerative diseases, infantile epilepsies, and liver metabolic diseases. (upenn.edu)
  • Neurodegenerative diseases and other brain conditions affect a staggering number of Americans. (brinj.org)
  • His research on Huntington's disease, spinocerebellar ataxias and other neurodegenerative diseases has been funded by the NIH and multiple foundations. (lacertatx.com)
  • Prosaposin (PSAP) modulates glycosphingolipid metabolism and variants have been linked to Parkinson's disease (PD). (nature.com)
  • Sanfilippo Syndrome is an inherited disease of metabolism that makes the body unable to properly break down long chains of sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. (levislifelovelaughter.org)
  • Bioactive sphingolipids in health and disease: lipidomic analysis, metabolism and roles in membrane signaling and autophagy. (sphingolipidclub.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • ERT is available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. (wikipedia.org)
  • ERT was not used in clinical practice until 1991, after the FDA gave orphan drug approval for the treatment of Gaucher disease with Alglucerase. (wikipedia.org)
  • Gaucher Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • He has a particular interest in Fabry disease and Gaucher disease. (stanford.edu)
  • Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)
  • and any other healthcare professionals with an interest in or who may clinically encounter patients with Gaucher disease. (scientiacme.org)
  • Substrate reduction therapy is another method for treating lysosomal storage diseases. (wikipedia.org)
  • None had a history of heart disease, previous substrate reduction therapy, or splenectomy. (medscape.com)
  • The majority of individuals with Krabbe disease present in early childhood although adult presentations as late as the 5thdecade are encountered 9 . (radiopaedia.org)
  • MR imaging and proton MR spectroscopy in adult Krabbe disease. (radiopaedia.org)
  • Kurtzberg was of the opinion that the test appears to be open to pregnant women who are at risk of having a baby with Krabbe disease, metachromatic leukodystrophy (MLD), Pelizaeus-Maerzbacher Disease (PMD), Tay-Sachs disease, or Sandoff disease. (healthjockey.com)
  • Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
  • The existing treatment options are limited and have no or only modest efficacy against neurological manifestations of disease. (ox.ac.uk)
  • Treatment of these neurological manifestations remains challenging due to the blood-brain barrier (BBB) that limits delivery of therapeutic agents to the central nervous system (CNS). (nih.gov)
  • Common manifestations include coarse facial features, neurodevelopmental delays and regression, joint contractures, organomegaly, stiff hair, progressive respiratory insufficiency (caused by airway obstruction and sleep apnea), cardiac valvular disease, skeletal changes, and cervical vertebral subluxation. (msdmanuals.com)
  • If left untreated, it can enlarge the liver and spleen and cause anemia, thrombocytopenia, neurologic damage, and bone disease, among other manifestations. (medscape.com)
  • We are using molecular, genetic and biochemical approaches to better define the normal function of sialin and to determine how loss of sialin function leads to neurodevelopmental defects and neurodegeneration associated with the lysosomal free sialic acid storage disorders. (stanford.edu)
  • This leads to aberrant intracellular storage of macromolecules, altering normal cell function and causing multiorgan syndromes, often fatal within the first years of life. (ibecbarcelona.eu)
  • Organomegaly, connective-tissue and ocular pathology, and central nervous system dysfunction may result. (medscape.com)
  • A second interest of our lab is to define mechanism underlying the pathology of lysosomal storage disorders. (stanford.edu)
  • GD is subcategorized based on clinical features: type 1 GD is the non-neuronopathic form and affects mainly the inner organs, while types 2 and 3 are the acute and sub-acute neuropathic forms, whose pathology manifests predominantly within central nervous system. (scientiacme.org)
  • It thus affects both the peripheral nervous system and the central nervous system (manifesting as a leukodystrophy ). (radiopaedia.org)
  • Over time, excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system (the nerves from the spinal cord to the rest of the body), liver, spleen, and bone marrow. (nih.gov)
  • Research in the Davidson Laboratory is focused on inherited genetic diseases that cause central nervous system dysfunction. (chop.edu)
  • The research team is also researching dominant genetic diseases, specifically the CAG repeat disorders, Huntington's disease and spinal cerebellar ataxia. (chop.edu)
  • The Forward presents this section to provide information on some of the more serious Jewish genetic diseases. (forward.com)
  • After a physician diagnoses the occurrence of one of the genetic diseases and the parents approve to treatment, donor cells are noted to be injected directly into the baby's abdomen at approximately 12 to 14 weeks into the pregnancy. (healthjockey.com)
  • We're looking at five different products that have been approved by the FDA, which is pretty impressive in the grand scheme of genetic diseases. (medscape.com)
  • AZ-3102 is an orally available azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
  • Niemann-pick disease type a presenting as unilateral tremors. (radiopaedia.org)
  • Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
  • Because there are numerous specific deficiencies, storage diseases are usually grouped biochemically by the accumulated metabolite. (msdmanuals.com)
  • Treatment is available with the drug cysteamine to reduce intracellular cystine content, but it only delays the progression of the disease. (ucsd.edu)
  • The disease mainly affects the heart, nervous system, and kidneys. (fabrydiseasenews.com)
  • The disease affects the body's sulfonylurea receptors in the pancreas, which control the secretion of insulin to regulate the levels of glucose in the bloodstream. (forward.com)
  • Fabry disease affects males differently than it does females due to the way it is passed through families (the inheritance), which is called X-linked inheritance. (mountsinai.org)
  • It primarily affects the central nervous system and typically manifests during the first year of life with vision impairment that can progress to blindness, progressive motor and cognitive decline, seizures and ultimately early death. (abeonatherapeutics.com)
  • Late-onset Tay-Sachs disease, which affects adults, is very rare. (medlineplus.gov)
  • The disease affects males and females equally. (nih.gov)
  • Polycystic ovary syndrome is an illness that mostly affects young women's reproductive systems and overall health, affecting at least one in every ten women of reproductive age. (msjc.edu)
  • CLN1 disease, also known as Infantile Neuronal Ceroid Lipofuscinosis or infantile Batten disease, is a rapidly-progressing rare lysosomal storage disease with no approved treatment. (abeonatherapeutics.com)
  • This is especially apparent in neuronal cells of the central nervous system where they have vital roles as neurotransmitters and cellular regulators. (matreya.com)
  • Neuronal ceroid lipofuscinosis 5 (NCL5) is a lysosomal storage disease affecting Border Collies. (pawprintgenetics.com)
  • Neuronal ceroid lipofuscinosis 10 (NCL10) is a lysosomal storage disease affecting dogs. (pawprintgenetics.com)
  • In recent work, the lab demonstrated that the application of recombinant viral vectors to various models of storage disease reversed CNS deficits and improved life span. (chop.edu)
  • As a research scientist for 19 years, Andrea participated in academic projects in multiple research fields, from stroke, gene regulation, cancer, and rare diseases. (fabrydiseasenews.com)
  • Lysosomal storage diseases in cats, a series of rare diseases affecting felines. (petlifey.com)
  • A single rare disease may affect up to about 30,000 people however the vast majority of rare diseases affect far fewer than this. (mpssociety.org.uk)
  • As a member of the sulfatase family, arylsulfatase A is encoded by the ARSA gene and required for the lysosomal degradation of cerebroside-3-sulfate, a sphingolipid sulfate ester and a major constituent of the myelin sheet (1). (bio-techne.com)
  • While cross-correction, either upon secretion- recapture after bone marrow transplantation was shown in several lysosomal storage disorders caused by defective soluble hydrolases, our study is the first demonstration of cross-correction in the context of a lysosomal transmembrane protein and of TNTs as key cellular device in the transfer. (ucsd.edu)
  • As a result, we now know many genetic defects responsible for neurological disease, but frequently we do not know much about the resulting protein product and therefore the pathophysiologic basis for the disease. (medscape.com)
  • Delivery of gene therapy is accomplished by using adeno-associated viruses, specifically serotypes 9 and 10, and lentiviruses due to their ability to reach the central nervous system. (trincoll.edu)
  • NEW YORK and CLEVELAND, May 21, 2019 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today announced that the Company is cleared to begin a Phase 1/2 clinical trial evaluating its novel, one-time gene therapy ABO-202 for the treatment of CLN1 disease, following acceptance of its Investigational New Drug (IND) application by the U.S. Food and Drug Administration (FDA). (abeonatherapeutics.com)
  • ABO-202 is a one-time AAV gene therapy designed to enable cells to produce the normal PPT1 enzyme, which is critical for proper lysosomal function. (abeonatherapeutics.com)
  • ABO-202 is a promising AAV9 gene therapy that extended survival and improved neurological function in the animal model of CLN1 disease. (abeonatherapeutics.com)
  • ABO-202 is a novel, one-time gene therapy for CLN1 disease, a rapidly-progressing rare lysosomal storage disease with no approved therapy. (abeonatherapeutics.com)
  • That means both parents must pass on the defective gene in order for their child to get this disease. (levislifelovelaughter.org)
  • Tay-Sachs disease is caused by a defective gene on chromosome 15. (medlineplus.gov)
  • When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. (medlineplus.gov)
  • Therapy primarily centers on hematopoietic stem cell transplantation which can delay disease progression 11 . (radiopaedia.org)
  • Disease progression is slow, but dogs are generally euthanized within 2 years of diagnosis when they can no longer stand or walk on their own. (pawprintgenetics.com)
  • The team attempts to discover noninvasive ways to bypass the BBB for sustained protein delivery across the BBB, which may have broader implications in treating other neurological diseases such as Alzheimer's disease and stroke. (cincinnatichildrens.org)
  • The finding suggests a novel route for the initiation of sporadic Alzheimer's disease, the authors suggest, and adds to the evidence that the autophagic pathway might make a promising therapeutic target if the findings can be reproduced in animal models. (alzforum.org)
  • Lack of this enzyme in patients with CLN1 disease results in neuroinflammation and neurodegeneration. (abeonatherapeutics.com)
  • In individuals with congenital hyperinsulinism, the sulfonylurea receptor system is impaired, so the beta cells of the pancreas keep secreting insulin, regardless of the blood sugar level. (forward.com)
  • In this treatment, the accumulated compounds are inhibited from forming in the body of a patient with a lysosomal storage disease. (wikipedia.org)
  • Azafaros is developing the compound as a potentially disease-modifying treatment in severe metabolic disorders including GM1 and GM2 gangliosidoses and NP-C. Enrollment of the first patient in the study is an important milestone for Azafaros in its mission to bring new treatment options to these patients and their families. (dutchnews.nl)
  • Dr. Reimer specializes in treatment of lysosomal storage disorders that affect the nervous system. (stanford.edu)
  • In better defining these processes we hope to achieve our long-term goal of identifying novel sites for treatment of diseases such as epilepsy and Parkinson Disease. (stanford.edu)
  • Dr. Wilson's laboratory focuses on the development of gene transfer vectors and their application in the treatment of inherited and acquired diseases. (upenn.edu)
  • this work has important implications in the treatment of cardiovascular disease (11). (upenn.edu)
  • At present, stem cell therapy is being evaluated as a possible treatment for Canavan disease. (forward.com)
  • When drug treatment fails, surgery must be done as soon as possible as the instability of the disease in infants is extremely dangerous and difficult to manage. (forward.com)
  • Finally, investigation of HP-b-CD treatment was performed where we observe that, although HP-b-CD reduces cholesterol storage, levels of NPC1 and NPC2 are not normalized to control levels. (bvsalud.org)
  • There is an FDA-approved treatment for Fabry disease, which replaces the missing alpha-Gal A enzyme. (mountsinai.org)
  • Importantly, the combined intravenous and intrathecal administration approach showed additional benefits compared to a single route of delivery, providing a new treatment paradigm for patients with devastating neurological diseases," said Steven J. Gray, Ph.D., Batten disease researcher and Associate Professor, Pediatrics, UT Southwestern Medical Center. (abeonatherapeutics.com)
  • There is no treatment for Tay-Sachs disease itself, only ways to make the person more comfortable. (medlineplus.gov)
  • This review summarizes existing and potential future treatment approaches that target brain disease in MPS. (nih.gov)
  • Yet, poor biodistribution to main targets such as the central nervous system, musculoskeletal tissue, and others, as well as generation of blocking antibodies and adverse effects hinder effective LSD treatment. (ibecbarcelona.eu)
  • SAN DIEGO - Eliglustat ( Cerdelga , Genzyme), a new oral treatment for type 1 Gaucher's disease, works almost as well as intravenous enzyme replacement therapy with imiglucerase, new research shows. (medscape.com)
  • ABO-202 is designed to deliver a functional copy of the PPT1 gene to cells of the central nervous system and peripheral organs using a combined intravenous and intrathecal delivery via the AAV9 vector. (abeonatherapeutics.com)
  • Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
  • Fabry disease is a genetic condition that results in reduced activity of an enzyme in the body called alpha-galactosidase A (alpha-Gal A). The purpose of alpha-Gal A is to break down a certain lipid, or fatty substance, called globotriaosylceramide (GL-3). (mountsinai.org)
  • Classic Fabry disease usually begins in childhood or teenage years. (mountsinai.org)
  • Adults with Fabry disease can develop heart disease, strokes, and kidney failure. (mountsinai.org)
  • Generally, children with the classic severe form of Hurler disease have progressive developmental delay, severe progressive physical problems and early advancement of the disease. (mpssociety.org.uk)
  • Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down a group of chemicals found in nerve tissue called gangliosides. (medlineplus.gov)
  • The extent of efficacy of HSPCs to rescue cystinosis was surprising especially considering that cystinosin is a transmembrane lysosomal protein. (ucsd.edu)
  • The molecular, biochemical, and cellular basis of genetic disease. (medlineplus.gov)
  • For reasons that remain incompletely understood, these diseases often affect the nervous system out of proportion to other organs. (stanford.edu)
  • Type 1, the most common form, does not affect the nervous system. (medscape.com)
  • The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. (scielo.org)
  • Instead, they are stored in the tissues, generally of the cat's nervous system, in atypical quantities, causing swelling of the cells and impairing their functioning. (petlifey.com)
  • Lysosomal storage diseases are a group of diseases and a main application of ERT. (wikipedia.org)