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.

All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.