Brain Imaging Findings of Methylmalonic Academia in 56 Children

Background and aims: Methylmalonic acidemia (MMA) is an autosomal- recessive inborn error of organic acid metabolism and caused by an L-methylmalonyl-CoA mutase deficiency. Patients often present with neurological symptoms. We describe the CT and MR brain sectional imaging findings in children with MMA and discuss related pathophysiological mechanisms.