Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan

@article{Chiu2014TwoFM,
  title={Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan},
  author={Yen-Hui Chiu and Yu-Ning Liu and Wei-Ling Liao and Ying-Chen Chang and S. -F. Lin and C. C. Hsu and P. .C Chiu and D Niu and Chung-Hsing Wang and Yu-Yuan Ke and Yin-Hsiu Chien and Kwang-jen Hsiao and Tze-tze Liu},
  journal={Biochemical Genetics},
  year={2014},
  volume={52},
  pages={415-429}
}
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… CONTINUE READING