Article
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
Human mutation - 1 Nov 2002
Peters Heidi L, Nefedov Mikhael, Lee Lai Wah, Abdenur Jose E, Chamoles Nestor A, Kahler Stephen G, Ioannou Panayiotis A
Abstract excerpt
Mutase-deficient (MUT) methylmalonic aciduria (MMA) is an autosomal recessive inborn error of organic acid metabolism, resulting from a functional defect in the nuclear encoded mitochondrial enzyme methylmalonyl-CoA mutase (MCM) (EC.5.4.99.2). The enzyme requires 5'-deoxyadenosylcobalamin as a cofactor. Isolated MMA results from either apoenzyme or cofactor defects, and is classified into several genotypic...
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