3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5
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.
Also known as 3-methylglutaconic aciduria caused by mutation in DNAJC19, 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type V, DCMA, DCMA syndrome, dilated cardiomyopathy with ataxia, DNAJC19 3-methylglutaconic aciduria, MGA5, MGCA5 — per MONDO