3-methylglutaconic aciduria type 5

MONDO:0012435

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, DNAJC19 3-methylglutaconic aciduria, MGA5, MGCA5

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Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Inborn disorder of amino acid metabolism (6) Inborn organic aciduria (5) Amino acid metabolism disease (2) Disease of genetic or genomic mechanism (2) 3-methylglutaconic aciduria (0)

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