glutaricaciduria type II

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 flavin-containing acyl-CoA dehydrogenases, which require both proteins for activity. It is caused by defects in any of three proteins: the α- or the β- subunit of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase. There are three subtypes, designated A, B, and C, based on the genetic defect involved. Additional manifestations include hypoglycemia without ketosis, metabolic acidosis, and a spectrum of phenotypic manifestations varying in severity, which is inversely correlated with increasing age of onset. When of neonatal onset it may be accompanied by congenital anomalies and is rapidly fatal. Called also multiple acyl CoA dehydrogenation deficiency.

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 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

  • 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

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

  • multiple acyl CoA dehydrogenation deficiency — (MADD) glutaricaciduria, type II …   Medical dictionary

  • electron transfer flavoprotein:ubiquinone oxidoreductase — elec·tron trans·fer fla·vo·pro·tein:ubiq·ui·none ox·i·do·re·duc·tase (e lekґtron transґfər fla″vo proґtēn u bikґwə nōn ok″sĭ do re dukґtās) [EC 1.5.5.1] a component of a side chain of redox reactions by… …   Medical dictionary

  • ethylmalonic-adipicaciduria — eth·yl·ma·lon·ic adip·ic·ac·id·uria (ethґəl mə lonґik ə dip″ik as ĭ duґre ə) glutaricaciduria, type II …   Medical dictionary

  • electron transfer flavoprotein — (ETF) a component of a side chain of redox reactions by which electrons are funneled to ubiquinone and thus the electron transport chain; electrons from acyl CoA thioesters and choline are transferred via the flavin of acyl CoA dehydrogenases,… …   Medical dictionary

  • glutaryl-CoA dehydrogenase — glu·ta·ryl CoA de·hy·dro·gen·ase (glooґtə rəl ko aґ de hiґdro jən ās) [EC 1.3.99.7] an enzyme of the oxidoreductase class that catalyzes the oxidative decarboxylation of glutaryl CoA, with sequential reduction of FAD and then… …   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

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