Propionic acidemia is a rare autosomal recessive disorder in which a genetic mutation results in the abnormal function of propionyl co-enzyme A (CoA) carboxylase, an enzyme involved in protein breakdown and lipid catabolsim. This results in the accumulation of metabolites which can have devastating neurologic consequences. The incidence in the United States has been reported as 1 in 100,000 births. The genetic and metabolic factors contributing to this disorder are discussed. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Pfeifer Cory, Menon Keshav

Keywords: Metabolic Crisis, Organic Acidemia, Propionic Acidemia