glutaricaciduria

glutaricaciduria
glu·tar·ic·ac·id·uria (gloo-tar″ik-as″ĭ-duґre-ə) 1. a genetically and clinically heterogeneous, autosomal recessive aminoacidopathy characterized by accumulation and excretion of glutaric acid in the urine. 2. excretion of glutaric acid in the urine.

Medical dictionary. 2011.

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  • glutaricaciduria type I — a disorder caused by mutation in the GCDH gene (locus: 19p13.2), resulting in a deficiency of glutaryl CoA dehydrogenase; 3 hydroxyglutaric acid is excreted in addition to glutaric acid, and there are progressive dystonia and dyskinesia,… …   Medical dictionary

  • glutaricaciduria type II — a genetically heterogeneous disorder due to deficiencies in the electron transport system, characterized by accumulation and excretion of glutaric and 2 hydroxyglutaric acids as well as multiple organic acids normally oxidized by mitochondrial… …   Medical dictionary

  • glutaricaciduria type III — a rare, generally benign metabolic abnormality caused by mutation in the C7ORF10 gene (locus: 7p14), characterized by urinary excretion of glutaric acid, with no consistent clinical phenotype; it may result from impaired peroxisomal metabolism …   Medical dictionary

  • List of diseases (G) — A list of diseases in the English wikipedia.DiseasesTOC G* G syndromeGaGal Gap* Galactorrhea * Galactocoele * Galactokinase deficiency * Galactorrhoea Hyperprolactinaemia * Galactosamine 6 sulfatase deficiency * Galactose 1 phosphate… …   Wikipedia

  • hydroxyglutaric acid — hy·droxy·glu·tar·ic ac·id (hi drok″se gloo tarґik) any of several hydroxylated derivatives of glutaric acid; 2 hydroxyglutaric acid is accumulated and excreted in glutaricaciduria, type II, and 3 hydroxyglutaric acid in glutaricaciduria,… …   Medical dictionary

  • ETFA — Electron transfer flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a human gene.cite web | title = Entrez Gene: ETFA electron transfer flavoprotein, alpha polypeptide (glutaric aciduria II)| url = http://www.ncbi.nlm …   Wikipedia

  • ETFB — Electron transfer flavoprotein, beta polypeptide, also known as ETFB, is a human gene.cite web | title = Entrez Gene: ETFB electron transfer flavoprotein, beta polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView …   Wikipedia

  • aciduria — 1. Excretion of an acid urine. 2. Excretion of an abnormal amount of any specified acid. Individual types of a. are prefixed by the specific acid; e.g., aminoaciduria, ketoaciduria. [acid + G. ouron …   Medical dictionary

  • glutaric acid — Pentanedioic acid; an intermediate in tryptophan catabolism; accumulates in glutaric acid emia. * * * glu·tar·ic acid glü .tar ik n a crystalline acid C5H8O4 used esp. in organic synthesis * * * glu·tar·ic ac·id (gloo tarґik) a dicarboxylic acid… …   Medical dictionary

  • MADD — Mothers Against Drunk Driving; multiple acyl CoA dehydrogenase deficiency * * * multiple acyl CoA dehydrogenation deficiency; see glutaricaciduria, type II …   Medical dictionary

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