DNAJC19-related 3-Methylglutaconic Aciduria is an uncommon disorder that affects mitochondrial function.

Former designation: 3-MGCA-5

DCMA = dilated cardiomyopathy with ataxia


Chromosome: 3q26.33

Gene: DNAJC19 (DNAJ heat shock protein family member C19)

The transcribed protein is located on the inner mitochondrial membrane.

It forms part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix (Gene, NLM).


Inheritance: autosomal recessive


Clinical findings:

(1) dilated cardiomyopathy

(2) abnormal ECG

(3) non-progressive cerebellar ataxia

(4) small, atrophic testes and/or cryptorchidism

(5) growth failure

(6) hepatic steatosis


Laboratory findings:

(1) 3-methylglutaconic aciduria

(2) anemia

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