3-methylglutaconicaciduria type II
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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 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
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
