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
