methylglutaconic aciduria type 5

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methylglutaconic aciduria type 5

An autosomal recessive disorder (OMIM:610198) characterised by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia with major motor delays, testicular dysgenesis and significant increases in urine organic acids, especially 3-methylglutaconic acid and 3-methylglutaric acid.

Molecular pathology
Caused by defects of DNAJC19, which encodes a translocase that transports peptides to the mitochondrial matrix.