Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

  title={Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.},
  author={Magdalena Ugarte and Celia P{\'e}rez-Cerd{\'a} and Pilar Rodr{\'i}guez-Pombo and Lourdes R Desviat and Bel{\'e}n P{\'e}rez and Eva Richard and Shigeo Muro and E Campeau and Toshihiro Ohura and R. A. Gravel},
  journal={Human mutation},
  volume={14 4},
Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl-CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, cholesterol, and other metabolites. The enzyme is composed of alpha and beta subunits which are encoded by the PCCA and PCCB genes, respectively. Mutations in both genes can cause propionic acidemia. The identification of the responsible gene, previous to… CONTINUE READING


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