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

@article{Ugarte1999OverviewOM,
  title={Overview of mutations in the PCCA and PCCB genes causing propionic acidemia},
  author={M. Ugarte and C. P{\'e}rez-Cerd{\'a} and P. Rodr{\'i}guez-Pombo and L. Desviat and B. P{\'e}rez and E. Richard and S. Muro and E. Campeau and T. Ohura and R. Gravel},
  journal={Human Mutation},
  year={1999},
  volume={14}
}
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 α and β 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 mutation… Expand
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An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
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