methylglutaconic aciduria type 5(redirected from MGA5)
methylglutaconic aciduria type 5An 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.
Caused by defects of DNAJC19, which encodes a translocase that transports peptides to the mitochondrial matrix.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.