| renal tubular transport, inborn errors | Genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of henle function, and distal nephron function. The transport defects can be selective or nonselective. (12 Dec 1998) |
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| pyruvate metabolism, inborn errors | Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. (12 Dec 1998) |
| inborn | Born in or with; implanted by nature; innate; as, inborn passions. Synonym: Innate, inherent, natural. (27 Oct 1998) |
| inborn error of metabolism | A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. (05 Mar 2000) |
| inborn errors of metabolism | Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism. (12 Dec 1998) |
| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
| inborn reflex | A reflex such as breathing that is innate. (05 Mar 2000) |
| fructose metabolism, inborn errors | Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosaemia, but with no clinical dysfunction; may produce a false-positive diabetes test. (12 Dec 1998) |
| acidic amino acid | An Amino acid with a second acid moiety, e.g., glutamic acid, aspartic acid, cysteic acid. (05 Mar 2000) |
| activated amino acid | The product formed by the condensation of the acyl radical of an amino acid and adenosine 5'-monophosphate (originally in the form of adenosine 5'-triphosphate, with elimination of a pyrophosphoric group). Formed in the first step of protein biosynthesis. Synonym: activated amino acid. (05 Mar 2000) |
| alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid | <chemical> Alpha-amino-2,3-dihydro-5-methyl-3-oxo-4-isoxazolepropanoic acid. An ibotenic acid homolog and glutamate agonist. The compound is the defining agonist for the ampa subtype of glutamate receptors (receptors, ampa). It has been used as a radionuclide imaging agent but is more commonly used as an experimental tool in cell biological studies. Pharmacological action: excitatory amino acid agonists. Chemical name: 4-Isoxazolepropanoic acid, alpha-amino-2,3-dihydro-5-methyl-3-oxo- (12 Dec 1998) |
| alpha-amino acid | Typically, an amino acid of the general formula R-CHNH2-COOH (i.e., the NH2 in the a position); the l forms of these are the hydrolysis products of proteins. In rarer usages, this class of molecules also includes alpha-amino phosphoric acids and alpha-aminosulfonic acids. (05 Mar 2000) |
| alpha-amino acid esterase | <enzyme> Converts alpha-amino acid esters and water to alpha-amino acids and alcohol Registry number: EC 3.1.1.43 Synonym: alpha-amino acid ester hydrolase (26 Jun 1999) |
| alpha-amino-beta-ketoadipic acid | 2-Amino-3-oxo-1,6-hexanedioic acid;an intermediate of porphobilinogen synthesis formed by d-aminolevulinic acid synthase from succinyl-CoA and glycine; it rapidly decarboxylates to d-aminolevulinic acid. (05 Mar 2000) |
| amino acid | <biochemistry> A class of organic molecules that containing an amino group and can combine in linear arrays to form proteins in living organisms. There are twenty common amino acids: alanine, arginine, aspargine, aspartic acid, cysteine, glutamic acid, glutamine, glycine, histidine, isoleucine, leucine, lysine, methionine, phenylalanine, proline, serine, threonine, tryptophan, tyrosine, and valine. They are key components in all living things from which proteins are synthesised by formation of peptide bonds during ribosomal translation of messenger RNA. All the amino acids have the L configuration, except glycine which is not optically active. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by post translational enzymatic modification of amino acid residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y aminobutyric acid, that have no relation to proteins. Amino acids can now be produced by biotechnology in bulk using fermentation and biotransformation. Acronym: AA (13 Nov 1997) |