The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DNAJC19 gene. DCMA or 3-methylglutaconic aciduria type V is globally rare but the largest number of patients in the world is found in the Hutterite population of southern Alberta in Canada. In this population the estimated birth prevalence is 1.54 per 1000 live births. However, elsewhere in the world it is quite rare, with a similar incidence to Barth syndrome. In our recent review (Machiraju et al. J Inherit Metab Dis 2022, PMID 34580891) we summarize the clinical experience of 43 DCMA patients diagnosed with DCMA between 2005 and 2015 at the Alberta Children’s Hospital in Calgary, Alberta, Canada. All patients studied were Hutterite and homozygous for the causative DNAJC19 variant (c.130-1G>C, IVS3-1G>C) and had elevated levels of 3-methyglutaconic acid.
DNAJC19