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Article

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Journal of human genetics - 1 Jan 2007

Sakamoto Osamu, Ohura Toshihiro, Matsubara Yoichi, Takayanagi Masaki, Tsuchiya Shigeru

Abstract excerpt

Methylmalonic acidemia (MMA) is caused by a deficiency in the activity of L: -methylmalonyl-CoA mutase (MCM), a vitamin B12 (or cobalamin, Cbl)-dependent enzyme. Apoenzyme-deficient MMA (mut MMA) results from mutations in the nuclear gene MUT. Most of the MUT mutations are thought to be private or restricted to only a few pedigrees. Our group elucidated the spectrum of mutations of Japanese mut MMA patients by...

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PMID: 17075691
DOI: 10.1007/s10038-006-0077-2

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