/3-methylglutaconic aciduria type 5

3-methylglutaconic aciduria type 5

Rare Disease

MONDO:0012435

Also Known As

3-methylglutaconic aciduria caused by mutation in DNAJC193-methylglutaconic aciduria type 53-methylglutaconic aciduria type VDCMADCMA syndromeDNAJC19 3-methylglutaconic aciduriaMGA5MGCA5dilated cardiomyopathy with ataxia3 alpha methylglutaconic aciduria type V3 methylglutaconic aciduria type V3-METHYLGLUTACONIC aciduria, type V3-Methylglutaconic aciduria, type 5MGA 5MGA VMga, type 5cardiomyopathy, dilated, with ataxia

Definition

A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.