methylglutaconic aciduria 5

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methylglutaconic aciduria 52016-11-27T04:46:39+00:00

methylglutaconic aciduria 5

METABOLISM

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

Molecular pathology Defects of DNAJC19, which encodes a translocase that transports peptides to the mitochondrial matrix, cause 3-methylglutaconic aciduria 5.

Synonyms 3-methylglutaconic aciduria, cardiomyopathy—dilated—with ataxia

References http://www.uniprot.org/uniprot/Q96DA6

http://www.omim.org/entry/610198

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