Catalog

3-methylglutaconic aciduria type 5

No MMS code

Link to WHO Definition

3-methylglutaconic aciduria type 5 – http://id.who.int/icd/entity/422277813

Dilated cardiomyopathy with ataxia (DCMA) is characterised 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.