3-methylglutaconicaciduria

3-methylglutaconicaciduria
3-meth·yl·glu·ta·con·ic·ac·id·uria (meth″əl-gloo″tə-kon″ik-as″ĭ-duґre-ə) 1. a genetically heterogeneous group of inherited branched-chain aminoacidopathies characterized by excessive 2. urinary excretion of 3-methylglutaconic acid. urinary excretion of 3-methylglutaconic acid.

Medical dictionary. 2011.

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  • 3-methylglutaconicaciduria type I — an autosomal recessive disorder of leucine catabolism caused by mutation in the AUH gene on chromosome 9, which encodes methylglutaconyl CoA hydratase, characterized by increased urinary excretion of 3 methylglutaconic, 3 hydroxyisovaleric, and 3 …   Medical dictionary

  • 3-methylglutaconicaciduria type II — Barth syndrome …   Medical dictionary

  • 3-methylglutaconicaciduria type III — an autosomal recessive neuroophthalmologic syndrome caused by mutation in the OPA3 gene (locus: 19q13.2 q13.3), which encodes a ubiquitously expressed protein of unknown function. It is characterized by early onset optic atrophy and later… …   Medical dictionary

  • 3-methylglutaconicaciduria type IV — a clinically heterogeneous group of autosomal recessive disorders otherwise unclassified and characterized by mildly increased urinary excretion of 3 methylglutaconic acid; characteristics are variable and include psychomotor retardation,… …   Medical dictionary

  • 3-methylglutaconicaciduria type V — an autosomal recessive disorder caused by mutation in the DNAJC19 gene (locus: 3q26.3), which encodes a mitochondrial transport protein, characterized by early onset dilated cardiomyopathy, ataxia, growth failure, and urinary excretion of 3… …   Medical dictionary

  • μ g microgram [JCAHO unapproved abbreviation] — master of general administration; medical gas analyzer; melengestrol acetate; 3 methylglutaconicaciduria …   Medical dictionary

  • μγ microgamma — master of general administration; medical gas analyzer; melengestrol acetate; 3 methylglutaconicaciduria …   Medical dictionary

  • MGA — master of general administration; medical gas analyzer; melengestrol acetate; 3 methylglutaconicaciduria …   Medical dictionary

  • dilated cardiomyopathy with ataxia — 3 methylglutaconicaciduria type V …   Medical dictionary

  • 3-methylglutaconic acid — 3 meth·yl·glu·ta·con·ic ac·id (meth″əl gloo″tə konґik) a dicarboxylic acid occurring at elevated levels in 3 methylglutaconicaciduria and 3 hydroxy 3 methylglutaricaciduria …   Medical dictionary

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