mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

Abstract excerpt

Methylmalonic aciduria (MMA) is an autosomal-recessive disorder caused by inadequate function of methylmalonyl-CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses adenosylcobalamin as a cofactor. Biochemical cell studies have delineated phenotypic variants: mut(0) phenotypes in which there is no detectable enzymatic activity and mut- phenotypes in which there is residual cobalamin-dependent...

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