Article
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
Molecular genetics and metabolism - 1 Aug 2004
Yang Xue, Sakamoto Osamu, Matsubara Yoichi, Kure Shigeo, Suzuki Yoichi, Aoki Yoko, Suzuki Yasuyuki, Sakura Nobuo, Takayanagi Masaki, Iinuma Kazuie, Ohura Toshihiro
Abstract excerpt
Methylmalonic acidemia (MMA) is caused by the deficient activity of l-methylmalonyl-CoA mutase, which is a vitamin B(12) (or cobalamin, Cbl)-dependent enzyme. MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). Recently, the genes responsible for cblA and cblB were identified as MMAA and MMAB, respectively. The MMAA protein likely transports Cbl into the...
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