Article
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Molecular genetics and metabolism - 1 Apr 2004
Yang Xue, Sakamoto Osamu, Matsubara Yoichi, Kure Shigeo, Suzuki Yoichi, Aoki Yoko, Yamaguchi Seiji, Takahashi Yukihiro, Nishikubo Toshiya, Kawaguchi Chiharu, Yoshioka Akira, Kimura Toshiyuki, Hayasaka Kiyoshi, Kohno Yoshinori, Iinuma Kazuie, Ohura Toshihiro
Abstract excerpt
Propionic acidemia (PA) is an inborn error of organic acid metabolism caused by a deficiency of propionyl-CoA carboxylase. This enzyme is composed of two non-identical subunits, alpha and beta, which are encoded by the PCCA and PCCB genes, respectively. An enzyme deficiency can result from mutations in either PCCA or PCCB. To elucidate the mutation spectrum in Japanese patients, we have performed a mutation...
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