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Definition

An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.

Acronym

MGA5

Synonyms

3-alpha-methylglutaconic aciduria type 5
DCMA
Dilated cardiomyopathy with ataxia
MGA type V
MGCA5

Keywords

Cardiomyopathy

 
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