3-methylglutaconicaciduria type IV

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, hypotonia, neonatal respiratory distress, inguinal hernia, subaortic stenosis, simian crease, and hepatic dysfunction.

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 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

  • 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

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

  • Barth syndrome — an X linked disorder caused by mutation in the TAZ gene (locus: q28), which encodes a protein of unknown function that is highly expressed in cardiac and skeletal muscle, characterized by dilated cardiomyopathy, hypotonia, neutropenia, and growth …   Medical dictionary

  • Costeff optic atrophy syndrome — 3 methylglutaconicaciduria type III …   Medical dictionary

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