In the article below, Alfares et al. used exome sequencing to solve the molecular basis ofÂ combined malonic and methylmalonic aciduria. Two individuals with a benign course identified by the Quebec urine screening program did not have mutations in the gene encodingÂ Malonyl-CoA decarboxylase. Exome sequencing revealed mutations inÂ ACSF3, which encode a mitochondrial acyl-CoA synthase. The authors suggest that ACSF3 might haveÂ malonyl or methylmalony-CoA synthetase activity.
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, MelanÃ§on S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.Â Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.Â J Med Genet. 2011 Sep;48(9):602-5
Posted by Philippe Campeau, MD