Article
Seven novel mutations in mut methylmalonic aciduria.
Human mutation - 1 Jan 1998
Adjalla C E, Hosack A R, Gilfix B M, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk N V, Rosenblatt D S
Abstract excerpt
Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations have been identified at the MUT locus on the short arm of chromosome 6, causing the mut forms of MMA (mut...
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