Amino Acid Transport Disorders, Inborn
Amino Acid Transport Systems
Amino Acids
Aminoisobutyric Acids
Amino Acid Transport Systems, Basic
Biological Transport
Amino Acid Transport System A
Biological Transport, Active
Expression of heteromeric amino acid transporters along the murine intestine. (1/5)
Members of the new heterodimeric amino acid transporter family are composed of two subunits, a catalytic multitransmembrane spanning protein (light chain) and a type II glycoprotein (heavy chain). These transporters function as exchangers and thereby extend the transmembrane amino acid transport selectivity to specific amino acids. The heavy chain rBAT associates with the light chain b degrees (,+)AT to form a cystine and cationic amino acid transporter. The other heavy chain, 4F2hc, can interact with seven different light chains to form various transporters corresponding to systems L, y(+)L, asc or x(-)(c). The importance of some of these transporters in intestinal and renal (re)absorption of amino acids is highlighted by the fact that mutations in either the rBAT or b degrees (,+)AT subunit result in cystinuria whereas a defect in the y(+)-LAT1 light chain causes lysinuric protein intolerance. Here we investigated the localization of these transporters in intestine since both diseases are also characterized by altered intestinal amino acid absorption. Real time PCR showed organ-specific expression patterns for all transporter subunit mRNAs along the intestine and Western blotting confirmed these findings on the protein level. Immunohistochemistry demonstrated basolateral coexpression of 4F2hc, LAT2 and y(+)-LAT1 in stomach and small intestine, whereas rBAT and b degrees (,+)AT were found colocalizing on the apical side of small intestine epithelium. In stomach, 4F2hc and LAT2 were localized in H(+)/K(+)-ATPase-expressing parietal cells. The abundant expression of several members of the heterodimeric transporter family along the murine small intestine suggests their involvement in amino acids absorption. Furthermore, strong expression of rBAT, b degrees (,+)AT and y(+)-LAT1 in the small intestine explains the reduced intestinal absorption of some amino acid in patients with cystinuria or lysinuric protein intolerance. (+info)Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. (2/5)
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance (LPI) is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage (WLL) is currently the gold standard therapy for severe cases of PAP. CASE PRESENTATION: We describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography (HRCT) pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL. CONCLUSION: Two years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI. (+info)Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (3/5)
(+info)Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (4/5)
(+info)Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. (5/5)
(+info)Amino acid transport disorders are a group of inherited metabolic disorders that affect the way in which amino acids (the building blocks of proteins) are transported into and out of cells in the body. These disorders occur when there is a defect in the genes responsible for producing the transporters that move amino acids across cell membranes.
There are several different types of amino acid transport disorders, each affecting a specific transporter or group of transporters. Some examples include:
* Cystinuria: This disorder affects the transporter that moves cystine and other basic amino acids (lysine, arginine, and ornithine) from the blood into the kidney cells. As a result, these amino acids accumulate in the urine and can form stones in the kidneys and bladder.
* Hartnup disorder: This disorder affects the transporter that moves neutral amino acids (such as tryptophan, alanine, serine, and glutamine) from the intestines into the bloodstream and from the kidney cells back into the bloodstream. As a result, these amino acids are not properly absorbed or reabsorbed, leading to symptoms such as skin rashes, ataxia, and cognitive impairment.
* Lysinuric protein intolerance: This disorder affects the transporter that moves basic amino acids (lysine, arginine, and ornithine) from the lysosomes (a type of organelle within cells) into the cytosol (the fluid inside the cell). As a result, these amino acids accumulate in the lysosomes and can cause damage to the cells.
Symptoms of amino acid transport disorders can vary widely depending on the specific disorder and the severity of the defect. Treatment may include dietary restrictions, supplements, and medications to help manage symptoms and prevent complications. In some cases, treatment may also involve replacing the missing or defective transporter with a functional one through gene therapy.
Amino acid transport systems refer to the various membrane transport proteins that are responsible for the active or passive translocation of amino acids across cell membranes in the body. These transport systems play a crucial role in maintaining amino acid homeostasis within cells and regulating their availability for protein synthesis, neurotransmission, and other physiological processes.
There are several distinct amino acid transport systems, each with its own specificity for particular types of amino acids or related molecules. These systems can be classified based on their energy requirements, substrate specificity, and membrane localization. Some of the major amino acid transport systems include:
1. System A - This is a sodium-dependent transport system that primarily transports small, neutral amino acids such as alanine, serine, and proline. It has several subtypes (ASC, A, and AN) with different substrate affinities and kinetic properties.
2. System L - This is a sodium-independent transport system that transports large, neutral amino acids such as leucine, isoleucine, valine, phenylalanine, and tryptophan. It has several subtypes (L1, L2, and y+L) with different substrate specificities and transport mechanisms.
3. System B0 - This is a sodium-dependent transport system that transports both neutral and basic amino acids such as arginine, lysine, and ornithine. It has several subtypes (B0,+, B0-, and b0,+) with different substrate affinities and kinetic properties.
4. System y+ - This is a sodium-independent transport system that transports primarily basic amino acids such as arginine, lysine, and ornithine. It has several subtypes (y+L, y+, b0,+) with different substrate specificities and transport mechanisms.
5. System X-AG - This is a sodium-independent antiporter system that exchanges glutamate and aspartate for neutral amino acids such as cystine, serine, and threonine. It plays an essential role in maintaining redox homeostasis by regulating the intracellular levels of cysteine, a precursor of glutathione.
These transport systems are critical for maintaining cellular homeostasis and regulating various physiological processes such as protein synthesis, neurotransmission, and immune function. Dysregulation of these transport systems has been implicated in several diseases, including cancer, neurological disorders, and cardiovascular disease. Therefore, understanding the molecular mechanisms underlying these transport systems is essential for developing novel therapeutic strategies to treat these conditions.
Amino acids are organic compounds that serve as the building blocks of proteins. They consist of a central carbon atom, also known as the alpha carbon, which is bonded to an amino group (-NH2), a carboxyl group (-COOH), a hydrogen atom (H), and a variable side chain (R group). The R group can be composed of various combinations of atoms such as hydrogen, oxygen, sulfur, nitrogen, and carbon, which determine the unique properties of each amino acid.
There are 20 standard amino acids that are encoded by the genetic code and incorporated into proteins during translation. These include:
1. Alanine (Ala)
2. Arginine (Arg)
3. Asparagine (Asn)
4. Aspartic acid (Asp)
5. Cysteine (Cys)
6. Glutamine (Gln)
7. Glutamic acid (Glu)
8. Glycine (Gly)
9. Histidine (His)
10. Isoleucine (Ile)
11. Leucine (Leu)
12. Lysine (Lys)
13. Methionine (Met)
14. Phenylalanine (Phe)
15. Proline (Pro)
16. Serine (Ser)
17. Threonine (Thr)
18. Tryptophan (Trp)
19. Tyrosine (Tyr)
20. Valine (Val)
Additionally, there are several non-standard or modified amino acids that can be incorporated into proteins through post-translational modifications, such as hydroxylation, methylation, and phosphorylation. These modifications expand the functional diversity of proteins and play crucial roles in various cellular processes.
Amino acids are essential for numerous biological functions, including protein synthesis, enzyme catalysis, neurotransmitter production, energy metabolism, and immune response regulation. Some amino acids can be synthesized by the human body (non-essential), while others must be obtained through dietary sources (essential).
Aminoisobutyric acids are a type of compounds that contain an amino group (-NH2) and an isobutyric acid group. Isobutyric acid is a type of short-chain fatty acid with the chemical formula (CH3)2CHCO2H. Aminoisobutyric acids can be found in some natural sources, such as certain types of bacteria, and they can also be synthesized in the laboratory for use in research and other applications.
There are several different isomers of aminoisobutyric acid, depending on the position of the amino group relative to the carbon chain. The most common isomer is 2-aminoisobutyric acid, also known as 2-methylalanine or 2-methylpropionic acid. This compound is a naturally occurring amino acid that is found in some proteins and is used in research to study protein structure and function.
Other isomers of aminoisobutyric acid include 3-aminoisobutyric acid, which is also known as tert-leucine or 2-methylbutyric acid, and 4-aminoisobutyric acid, which is also known as neopentylamine or 2,2-dimethylpropionic acid. These compounds are less common than 2-aminoisobutyric acid and have different chemical properties and uses.
In general, aminoisobutyric acids are used in research to study a variety of biological processes, including protein folding, enzyme function, and cell signaling. They can also be used as building blocks for the synthesis of other chemicals and materials.
Amino acid transport systems are specialized cellular mechanisms responsible for the active transport of amino acids across cell membranes. These systems are essential for maintaining proper amino acid homeostasis within cells and organisms. They consist of several types of transporters that can be categorized based on their energy source, electrochemical gradient, substrate specificity, and functional characteristics.
The term 'basic' in this context typically refers to the fundamental understanding of these transport systems, including their structure, function, regulation, and physiological roles. Amino acid transport systems play a crucial role in various biological processes, such as protein synthesis, neurotransmission, cell signaling, and energy metabolism.
There are two primary types of amino acid transport systems:
1. **Na+-dependent transporters:** These transporters utilize the sodium gradient across the cell membrane to drive the uptake of amino acids. They can be further divided into subtypes based on their substrate specificity and functional properties, such as system A, system ASC, system B0, system B, system L, and system y+.
2. **Na+-independent transporters:** These transporters do not rely on the sodium gradient for amino acid transport. Instead, they use other energy sources like proton gradients or direct coupling to membrane potential. Examples of Na+-independent transporters include system L, system y+, and system x-AG.
Understanding the basic aspects of amino acid transport systems is essential for elucidating their roles in health and disease. Dysregulation of these systems has been implicated in various pathological conditions, such as neurological disorders, cancer, and metabolic diseases.
Biological transport refers to the movement of molecules, ions, or solutes across biological membranes or through cells in living organisms. This process is essential for maintaining homeostasis, regulating cellular functions, and enabling communication between cells. There are two main types of biological transport: passive transport and active transport.
Passive transport does not require the input of energy and includes:
1. Diffusion: The random movement of molecules from an area of high concentration to an area of low concentration until equilibrium is reached.
2. Osmosis: The diffusion of solvent molecules (usually water) across a semi-permeable membrane from an area of lower solute concentration to an area of higher solute concentration.
3. Facilitated diffusion: The assisted passage of polar or charged substances through protein channels or carriers in the cell membrane, which increases the rate of diffusion without consuming energy.
Active transport requires the input of energy (in the form of ATP) and includes:
1. Primary active transport: The direct use of ATP to move molecules against their concentration gradient, often driven by specific transport proteins called pumps.
2. Secondary active transport: The coupling of the movement of one substance down its electrochemical gradient with the uphill transport of another substance, mediated by a shared transport protein. This process is also known as co-transport or counter-transport.
Amino acid transport system A, also known as system ASC or alanine-serine-cysteine transporter, is a type of amino acid transporter found in the membranes of cells. It is responsible for the uptake of small neutral amino acids, such as alanine, serine, and cysteine, into the cell. This transport system plays an important role in maintaining amino acid homeostasis within the body and is particularly important in tissues with high rates of protein turnover, such as the intestines and kidneys. It is also expressed in the brain, where it is involved in the regulation of neurotransmitter synthesis. Defects in this transport system have been implicated in various diseases, including neurological disorders and cancer.
Biological transport, active is the process by which cells use energy to move materials across their membranes from an area of lower concentration to an area of higher concentration. This type of transport is facilitated by specialized proteins called transporters or pumps that are located in the cell membrane. These proteins undergo conformational changes to physically carry the molecules through the lipid bilayer of the membrane, often against their concentration gradient.
Active transport requires energy because it works against the natural tendency of molecules to move from an area of higher concentration to an area of lower concentration, a process known as diffusion. Cells obtain this energy in the form of ATP (adenosine triphosphate), which is produced through cellular respiration.
Examples of active transport include the uptake of glucose and amino acids into cells, as well as the secretion of hormones and neurotransmitters. The sodium-potassium pump, which helps maintain resting membrane potential in nerve and muscle cells, is a classic example of an active transporter.
The amino acid transport system L is a type of membrane transport system that is responsible for the uptake of large neutral amino acids (LNAAs) into cells. This system is composed of several different proteins, including the light chain subunit LAT1 and the heavy chain subunit CD98hc, which form a heterodimer that functions as an amino acid transporter.
The transport system L primarily mediates the uptake of LNAAs such as leucine, isoleucine, valine, phenylalanine, tyrosine, and tryptophan into cells. It plays important roles in various physiological processes, including protein synthesis, neurotransmitter synthesis, and cell signaling.
The transport system L is also known as the L-type amino acid transporter (LAT) or the sodium-independent neutral amino acid transporter (SNAT). Mutations in genes encoding components of this transport system have been associated with various diseases, including neurological disorders and cancer.
Amino Acid Transport Disorders, Inborn | Profiles RNS
Inborn errors of renal tubular transport - Wikipedia
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Hartnup Disease: Practice Essentials, Background, Pathophysiology
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Inherited disorders of amino acid transport in relation to the kidney - Fingerprint - Research Nebraska
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Homocystinurias and defects of folate and methylation metabolism: practical approaches to diagnosis and treatment. - ...
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Lipid Metabolism, Inborn Errors | Palmetto Profiles
Errors26
- Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. (wikipedia.org)
- Evaluating patients with possible inborn errors of metabolism using random urine specimens. (marshfieldlabs.org)
- Many inborn errors of amino acid metabolism that affect amino acid transport or metabolism have been identified, such as phenylketonuria and tyrosinemia. (marshfieldlabs.org)
- Further topics will include detailed description of inborn errors of metabolism of sulfur amino acids and B-vitamins, association of B-vitamin disturbances with common disorders, diagnostic algorithms for hyperhomocysteinemias and methylation disorders including new-born screening strategies. (com.es)
- Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (umassmed.edu)
- Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (merckmanuals.com)
- Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
- Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (musc.edu)
- This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major or minor topic of these publications. (musc.edu)
- Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles. (musc.edu)
- Inborn errors of taurine metabolism have been described. (selfdecode.com)
- Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (nih.gov)
- The training program includes intensive interactions with children and adults with inborn errors of metabolism. (ucla.edu)
- Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly process carbohydrates, leading to various metabolic disorders. (lookformedical.com)
- Over recent years we have been able to distribute samples from patients with a wide range of inborn errors including amino acid, organic acid, energy metabolism, mucopolysaccharide, sphingolipid storage, purine/pyrimidine, peroxisomal and creatine synthesis disorders but now our resources are becoming stretched and it is becoming difficult to source suitable samples for use as EQA materials. (erndim.org)
- Introduction: Inborn errors of metabolism (IEM) are diseases caused by genetic disorders that alter the function of different metabolic pathways. (bvsalud.org)
- In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
- inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
- The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. (biomedcentral.com)
- We aimed to determine out-of-pocket health expenditures of patients with inborn errors of metabolism during follow-up and treatment processes and to determine the economic burden on the families. (biomedcentral.com)
- A total of 232 patients who voluntarily agreed to participate in the study and were regularly followed up in the Department of Pediatric Metabolism with the diagnosis of Inborn Errors of Metabolism between April 2022 and July 2022 were included. (biomedcentral.com)
- It is necessary to carry out more comprehensive studies to determine and prevent the socioeconomic effects of out-of-pocket health expenditures of patients living with Inborn Errors of Metabolism. (biomedcentral.com)
- Inborn errors of metabolism, characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters, also known as inherited metabolic diseases, constitute a group of diseases presenting with different signs. (biomedcentral.com)
- Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
- The focus of this research paper will be on the three major categories of inborn errors of metabolism as described above. (essayempire.com)
- Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)
Deficiency11
- These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. (marshfieldlabs.org)
- Familiarizing with practical issues in diagnosing and treating patients with CBS deficiency and remethylation disorders. (com.es)
- Urinary orotic acid generally is very elevated in babies with OTC deficiency and normal or even low in infants with CPS deficiency. (nih.gov)
- Patients with OTC deficiency have increased excretion of orotic acid because carbamyl phosphate spills into the cytoplasm, where it enters the pathway of pyrimidine synthesis. (nih.gov)
- [ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)
- In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines. (medscape.com)
- Valproic acid may cause an acquired type of secondary carnitine deficiency by directly impairing renal tubular reabsorption of carnitine. (medscape.com)
- Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. (supplemented.co.uk)
- Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. (lookformedical.com)
- Phenylketonuria (PKU) and biotinidase deficiency (BD) are metabolic disorders that are commonly encountered in Turkey. (biomedcentral.com)
- MSUD is caused by a deficiency of the BCKD complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. (medscape.com)
Defects7
- General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease. (marshfieldlabs.org)
- Knowledge on frequency, pathophysiology, clinical manifestation, diagnosis and treatment of homocystinurias, methylation defects and genetic disorders of B-vitamin metabolism. (com.es)
- Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. (merckmanuals.com)
- Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. (uams.edu)
- A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. (lookformedical.com)
- The three main categories of disease include the mitochondrial myopathies, fatty acid oxidation defects (FAODs), and glycogen storage diseases (GSDs). (essayempire.com)
- Although other conditions, such as amino acid and fatty acid oxidation defects, also occur in the mitochondria, they are not traditionally considered part of the mitochondrial disorders. (essayempire.com)
Phenylketonuria2
- Individuals with amino-alkanoic acid metabolism disorder phenylketonuria (PKU) are unable to method phenylalanine properly. (beehealthy.org)
- NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 conditions. (cdc.gov)
Error of metabolism4
- Due to the importance of this disease, children are usually screened for an inborn error of metabolism before long when birth. (beehealthy.org)
- Individuals with an inborn error of metabolism are placed on a special low-protein diet, that is mostly maintained forever. (beehealthy.org)
- Inborn error of metabolism. (albionfoundation.org)
- An inborn error of metabolism is suspected. (abcdocz.com)
Carnitine4
- Fatty acids enter the mitochondria via the carnitine transport cycle (medium chain fatty acids enter independently of carnitine) into the β-oxidation spiral in which fatty acids, via a series of enzymes, produce acetyl-CoA and electron carriers. (oncohemakey.com)
- Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. (medscape.com)
- SLC22A5 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. (medscape.com)
- Of the following, the MOST appropriate laboratory study to obtain is A. B. C. D. E. leukocyte lysosomal enzyme activities plasma long-chain fatty acid levels serum carnitine level urine for reducing substances urine organic acid levels A 3-month-old infant who has a history of gastroesophageal reflux has had increasing vomiting for 2 days. (abcdocz.com)
Biochemical9
- Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. (medscape.com)
- These biochemical reactions frequently involve cofactors, often vitamins, which help the specific enzyme function, e.g. vitamin B 6 is the cofactor for the enzyme cystathionine β synthase which converts the amino acid homocysteine into cystathionine. (oncohemakey.com)
- He/She provides direct and consultative care for individuals of all ages who are diagnosed with biochemical disorders. (ucla.edu)
- The Medical Biochemical Geneticist will be trained to care for patients with metabolic disorders and learn diagnosis and monitoring of patients with this family of conditions. (ucla.edu)
- Transport of the samples to ERNDIM can be organised through your local Biochemical genetic testing lab and ERNDIM will pay reasonable transport costs for pre-agreed samples but please contact ERNDIM ( [email protected] ) before sending any samples. (erndim.org)
- A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
- These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
- Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)
- The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)
Pathways1
- Because anticonvulsants work (at least in part) by blocking glutamate pathways in the brain, high dosages of the amino acid glutamine might theoretically diminish an anticonvulsant's effect and increase the risk of seizures. (epnet.com)
Urine3
- Children also manifest extreme hyperactivity, gait disturbance, and psychoses and often exhibit an unpleasant, mousy body odor caused by phenylacetic acid (a breakdown product of phenylalanine) in urine and sweat. (merckmanuals.com)
- Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. (medscape.com)
- After an expanded newborn screening, she had plasma amino acid analysis, urine metabolic screening and urine organic acid profile done at 6 weeks of age, which show mild ketosis with mild lactic acidosis. (jmust.org)
Catabolic1
- Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
Metabolism disorder1
- When it is necessary to suspect metabolism disorder? (clingenetic.com.ua)
LIPIDS2
- G-6-PO 4 can also be produced via pyruvate from protein catabolism of glucogenic amino acids ( Table 17.1 ) or breakdown of glycerol from lipids (gluconeogenesis). (oncohemakey.com)
- Dietary fats, and lipids produced endogenously from acetyl-CoA, are initially hydrolysed by lipases into glycerol and free fatty acids. (oncohemakey.com)
Mitochondria3
- Acetyl-CoA enters the Krebs cycle, also known as the citric acid or tricarboxylic (TCA) cycle, within the mitochondria. (oncohemakey.com)
- It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. (medscape.com)
- ОА, caused by the disorder of bioenergy processes (Creb's cycle), cellular breath, oxidative phosphorylation in mitochondria of cells. (clingenetic.com.ua)
Degradation2
- An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (mcw.edu)
- To produce energy G-6-PO 4 (derived from monosaccharides from dietary CHO or produced from glycogen degradation by glycogenolysis) is converted by a series of enzyme reactions in the glycolytic pathway to form pyruvate or lactic acid, then to acetyl-CoA, which is also produced from fatty acid oxidation and degradation of the carbon skeleton of glucogenic amino acids ( Table 17.1 ). (oncohemakey.com)
Alanine2
- Plasma concentrations of glutamine and alanine, the major nitrogen-carrying amino acids, usually are high and that of arginine is low. (nih.gov)
- The amino acids alanine and glutamic acid, as well as pantothenic acid, inhibit taurine metabolism while vitamins A and B6, zinc and manganese help build taurine. (selfdecode.com)
Cell membranes3
- Disorders characterized by defective transport of amino acids across cell membranes. (ouhsc.edu)
- Taurine has many diverse biological functions serving as a neurotransmitter in the brain, a stabilizer of cell membranes and a facilitator in the transport of ions such as sodium, potassium, calcium and magnesium. (selfdecode.com)
- Mammalian cells cannot synthesis RF endogenously, and thus, must obtain this essential micronutrient from their surroundings via transport across cell membranes. (biomedcentral.com)
Intestine6
- Hartnup disease is an autosomal recessive disorder caused by impaired neutral (ie, monoaminomonocarboxylic) amino acid transport in the apical brush border membrane of the small intestine and the proximal tubule of the kidney. (medscape.com)
- SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in the kidneys and intestine. (medscape.com)
- Mutations in the SLC6A19 gene, which encodes the SLC6A19 (B 0 AT1) neutral amino acid transporter, causes a failure of the transport of neutral (ie, monoaminomonocarboxylic) amino acids in the small intestine and the renal tubules. (medscape.com)
- An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. (uchicago.edu)
- Carbohydrates, as monosaccharides (glucose, fructose, galactose), are absorbed in the intestine and then transported to the liver where excess glucose, galactose and fructose are converted to glucose-6-phosphate (G-6-PO 4 ). (oncohemakey.com)
- A test tube study suggested that anticonvulsants might lower biotin levels by interfering with the way biotin is transported in the intestine. (epnet.com)
Specific amino acid2
- The clinical presentation is dependent upon the specific amino acid disorder. (marshfieldlabs.org)
- 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. (lookformedical.com)
Essential amin4
- L-phenylalanine is a necessary amino-alkanoic acid and is that the sole sort of essential amino acid found in proteins. (beehealthy.org)
- Therefore there was hope that providing essential amino acid may treat ADHD. (beehealthy.org)
- Yet taurine is an essential amino acid in pre-term and newborn infants of humans and many other species. (selfdecode.com)
- Is ornithine an essential amino acid? (supplemented.co.uk)
Protein11
- Eating a range of protein-rich foods throughout the day can give you with all the l-phenylalanine you wish, at the side of alternative essential amino acids. (beehealthy.org)
- It is a lesser-known amino acid because it is not incorporated into the structural building blocks of protein. (selfdecode.com)
- Dietary protein is broken down into 20 individual amino acids for absorption. (oncohemakey.com)
- For instance, ornithine and arginine promote the secretion of growth hormone, which enhances protein synthesis, and therefore these amino acids supplements are expected to aid muscle hypertrophy. (supplemented.co.uk)
- Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). (lookformedical.com)
- Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
- The protein contains 323 amino acids. (bionity.com)
- We used comparative protein-structure modelling to predict residues that interact with two amino acids known to be critical for hRFVT-2 function (the clinical mutants L123 and L339), site-directed mutagenesis, and truncation approach in the human-derived brain U87 cell model. (biomedcentral.com)
- this inhibition was associated with changes in protein stability/translation efficiency (in the case of V120A and L342A) and an impairment in transport function (in the case of L121). (biomedcentral.com)
- Our aim in this study was to expand our knowledge in these areas, and we used a comparative protein-structure modelling to predict residues that interact with two amino acids known to be critical for hRFVT-2 function, i.e. (biomedcentral.com)
- Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)
Leucine1
- Leucine is rapidly transported across the blood-brain barrier and is metabolized to presumably yield glutamate and glutamine. (medscape.com)
Proteins3
- Amino acids are the basic structural units that comprise proteins and are found throughout the body. (marshfieldlabs.org)
- Phenylalanine is an amino acid, which is "building blocks" of proteins. (beehealthy.org)
- A non-essential and nonprotein amino acid, ornithine is critical for the production of the body's proteins, enzymes and muscle tissue. (supplemented.co.uk)
Glutamic acid2
- It also lowers glutamic acid in the brain, and preliminary clinical trials suggest taurine may be useful in some forms of epilepsy. (selfdecode.com)
- The parathyroid gland makes a peptide hormone called glutataurine (glutamic acid-taurine), which further demonstrates taurine's role in endocrinology. (selfdecode.com)
Compounds3
- This course will give an overview of sulfur amino acids metabolism and of related sulfur containing compounds and its dependence on functional B-vitamin processing. (com.es)
- Catabolism is the breakdown of large complex molecules to provide energy for cellular activity and smaller compounds, e.g. amino acids, needed for anabolic reactions or for elimination from the body. (oncohemakey.com)
- In the following years, Dancis et al identified the pathogenetic compounds as branched-chain amino acids and their corresponding alpha-keto acids. (medscape.com)
Epithelial2
- [ 10 , 11 ] In an animal model of Hartnup disorder, mice lacking SLC6A19 (B 0 AT1) transporter general neutral aminoaciduria were observed, as well as the decreased body weight, demonstrating the essential role of epithelial amino acid uptake in optimal growth and bodyweight regulation. (medscape.com)
- Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. (medscape.com)
Congenital2
- A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. (uams.edu)
- Congenital disorders of glycosylation. (lookformedical.com)
Mutations5
- Both studies demonstrated that mutations in SLC6A19 are associated with Hartnup disorder. (medscape.com)
- The requirement for 2 transport-impairing mutations for disease expression confirmed a recessive mode of inheritance. (medscape.com)
- Currently, 17 mutations in SLC6A19 have been described in patients with Hartnup disorder. (medscape.com)
- In addition to the vast array of mutations found within the maternally inherited mitochondrial DNA (mtDNA), there is an increasing recognition of the mitochondrial disorders arising from mutations within the nuclear genome and following Mendelian genetic inheritance patterns. (essayempire.com)
- After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. (medlink.com)
Hartnup6
- in consanguineous Japanese pedigrees demonstrated linkage of Hartnup disorder to band 5p15. (medscape.com)
- In all investigated individuals with Hartnup disorder, 2 mutant SLC6A19 alleles were found, confirming recessive mode of inheritance. (medscape.com)
- [ 14 ] The most common mutation in Hartnup disorder is c.517G→A, resulting in the amino acid substitution p.D173N, and it can be found in 43% of patients. (medscape.com)
- A novel mutation, c.850G→A, in exon 6 of the SLC6A19 gene was described in a Chinese family with typical clinical characteristics of Hartnup disorder. (medscape.com)
- [ 30 ] as well as a patient with manifestations of kwashiorkor and acrodermatitis enteropathica but with normal zinc levels, which led to the search for other metabolic disorders, and Hartnup disorder was confirmed. (medscape.com)
- Wilcken et al found that of 14 patients with Hartnup disorder who were observed for 8 years, 10 had height percentiles less than the midparent height percentiles, while 4 had percentiles equal to or above the midparent percentiles. (medscape.com)
Sulfur2
- Metabolism of sulfur amino acids is intertwined with metabolism and transport of folates and several B- vitamins. (com.es)
- Dietary supplement, e.g. in Red Bull drink Taurine is a sulfur amino acid like methionine, cystine, cysteine and homocysteine. (selfdecode.com)
Tyrosine1
- Dietary treatment involves use of a medical food/formula, PHE free and nutritionally complete with 100-120 mg/kg/day tyrosine and total amino acid content of at least 3 g/kg/day for children under 24 months and maintained at 2 g/kg/day for children over 24 months. (nih.gov)
Mitochondrial disorders4
- Mitochondrial disorders represent a diverse group of conditions with a primary defect in electron transport chain function. (essayempire.com)
- Genetic testing for mitochondrial disorders using sequence analysis and deletion testing of the mitochondrial genome was negative and identified no pathogenic variant. (jmust.org)
- Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
- In general, mitochondrial disorders are disorders of energy production. (medlink.com)
Defect2
- Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
- [ 2 ] In 1960, Dancis et al demonstrated that the enzymatic defect in MSUD was at the level of the decarboxylation of the branched-chain amino acids. (medscape.com)
Kidneys2
- Overview of Amino Acid and Organic Acid Metabolism Disorders The kidneys actively reabsorb significant amounts of amino acids. (merckmanuals.com)
- Creatine (N-(aminoiminomethyl-N-methyl glycine) is an important amino acid based metabolite produced in the kidneys, liver and pancreas and used by the muscle in the production of energy [ 1-3 ]. (oatext.com)
Defective1
- an enzyme defective within a particular organ or tissue, such as the liver , muscle , or brain , might lead to low energy production or prevent transport to the part of the body requiring energy. (newworldencyclopedia.org)
Liver4
- In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly. (medscape.com)
- The presence of pathologic changes in a pregnant, such as continued toxicosis or an acute fatty dystrophy of the liver, can be the result of the disorder of fatty acid oxidation in a fetus. (clingenetic.com.ua)
- Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
- Seizures from metabolic liver disorders. (albionfoundation.org)
Diagnosis4
- The rate of catastrophic expenditure of patients with a diagnosis of Amino Acid Metabolism Disorders was found to be higher than that of patients with a diagnosis of Vitamin and Cofactor Metabolism Disorders. (biomedcentral.com)
- Similarly, patients with a diagnosis of lysosomal storage diseases had more expenditures than patients with a diagnosis of vitamin and cofactor metabolism disorders. (biomedcentral.com)
- Child neurologist and medical geneticist focusing on the diagnosis and management of rare neurologic disorders. (stanford.edu)
- Finally, multisystem disorders such as the mitochondrial myopathies may be mislabeled as multiple sclerosis (MS), nonspecific encephalopathy, or vasculitis, and accurate diagnosis can avoid inappropriate therapeutic interventions such as b-interferon for MS or cyclophosphamide for vasculitis. (essayempire.com)
Fatty acids3
- Dietary fat is present mainly as long chain triglycerides, comprising a glycerol backbone and fatty acids. (oncohemakey.com)
- Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. (medscape.com)
- ОА, caused by the disorder of transport or mitochondrial oxidation of fatty acids. (clingenetic.com.ua)
Newborn2
- Part VI Metabolic Disorders of the Newborn 21. (booksca.ca)
- Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens. (cdc.gov)
Infants2
- Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. (medscape.com)
- In 1954, Menkes et al reported a family in which 4 infants died within the first 3 months of their lives because of a neurodegenerative disorder. (medscape.com)
Disease2
- l-phenylalanine is employed for depression, attention deficit-hyperactivity disorder (ADHD), Parkinson's unwellness, chronic pain, degenerative joint disease, an autoimmune disorder, alcohol withdrawal symptoms, and a skin disorder referred to as vitiligo. (beehealthy.org)
- Aside from her brother, the family genogram (Figure 3) revealed no significant illness that would indicate a mitochondrial or hereditary neurodegenerative disease, and all other half-siblings from both parents' first marriages showed no signs of neurologic disorder. (jmust.org)
Arginine1
- However, ornithine might help to increase levels of the amino acid, arginine. (supplemented.co.uk)
Accumulation1
- Organic acidurias (acidemias) - a group of inherent diseases, which is characterized by the disorder of intermediate metabolism with the accumulation of carboxyl acids. (clingenetic.com.ua)
Dietary2
- [ 3 ] Snyderman et al initiated the first successful dietary treatment of MSUD by restricting intake of branched-chain amino acids. (medscape.com)
- Even people with a more severe neurological disorder may find dietary modification provides a benefit. (epiphanyasd.com)