" /> 3-methylglutaconic aciduria, type V - CISMeF





Preferred Label : 3-methylglutaconic aciduria, type V;

Symbol : MGCA5;

CISMeF acronym : DCMA; MGA5; MGCA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with ataxia; Mga, type V; MGA5; DCMA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the E. coli DNAJ subfamily C member 19 gene (DNAJC19, 608977.0001);

Laboratory abnormalities : 3-methylglutaconic aciduria (3-MGC); 3-methylglutaric aciduria (3-MGA); Mildly elevated hepatic enzymes;

Prefixed ID : #610198;

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29/07/2025


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