Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Leslie Biesecker and colleagues report exome sequencing of an individual with combined malonic and methylmalonic aciduria (CMAMMA). With follow-up sequencing of an additional eight cases, they confirm ACSF3 as a cause of CMAMMA. They further report a canine model for CMAMMA that has a mutation in a putative ACSF3 ortholog.