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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.