Two frequent mutations associated with the classic form of propionic acidemia in Taiwan

Biochem Genet. 2014 Oct;52(9-10):415-29. doi: 10.1007/s10528-014-9657-6. Epub 2014 May 27.


Propionyl-CoA carboxylase (PCC) is involved in the catabolism of branched chain amino acids, odd-numbered fatty acids, cholesterol, and other metabolites. PCC consists of two subunits, α and β, encoded by the PCCA and PCCB genes, respectively. Mutations in the PCCA or PCCB subunit gene may lead to propionic acidemia. In this study, we performed mutation analysis on ten propionic acidemia patients from eight unrelated and nonconsanguineous families in Taiwan. Two PCCA mutations, c.229C→T (p.R77W) and c.1262A→C (p.Q421P), were identified in a PCCA-deficient patient. Six mutations in the PCCB gene, including c.-4156_183+3713del, c.580T→C (p.S194P), c.838dup (p.L280Pfs 11), c.1301C→T (p.A434V), c.1316A→G (P.Y439C), and c.1534C→T (p.R512C), were identified in seven PCCB-deficient families. The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions. Furthermore, the c.1301C→T and c.-4156_183+3713del mutations in the PCCB gene have not been reported previously. Clinical features demonstrated that these two frequent mutations are associated with low enzyme activity and a classic propionic acidemia phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Female
  • Genetic Association Studies
  • Genetic Linkage
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Methylmalonyl-CoA Decarboxylase / genetics*
  • Methylmalonyl-CoA Decarboxylase / metabolism
  • Mutation*
  • Propionic Acidemia / enzymology*
  • Propionic Acidemia / genetics
  • Protein Subunits / genetics
  • Protein Subunits / metabolism
  • Sequence Analysis, DNA
  • Taiwan


  • Protein Subunits
  • Methylmalonyl-CoA Decarboxylase