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
3-Methylglutaconic aciduria — Classification and external resources 3 methylglutaconic acid DiseasesDB … Wikipedia
3-methylglutaconic aciduria — Elevated levels of 3 methylglutaconic acid in the urine. An inherited disorder whose mild form is a result of a deficiency of 3 methylglutaconyl CoA hydratase, leading to delayed speech development … Medical dictionary
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… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
3 methylcrotonic aciduria — is a disorder characterised by urine that contains increased amounts of 3 methylcrotonic acid. It is caused by defects in a biotin dependent reaction that forms 3 methylglutaconic acid.External links* … Wikipedia
Acide 3-méthylglutaconique — Structure de l acide 3 méthylglutaconique Général No CAS … Wikipédia en Français
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
