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Article

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

The Biochemical journal - 15 Jan 1999

Küchler B, Abdel-Ghany A G, Bross P, Nandy A, Rasched I, Ghisla S

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCADH) deficiency, an autosomal recessive inherited disorder, is the most common genetic disorder in mitochondrial beta-oxidation in humans. In addition to one prevalent disease-causing mutation (K304E), a series of rarer mutations has been reported, but none of these has yet been characterized in detail. We report here on the biochemical characterization of the purified...

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PMID: 9882619
PMCID: PMC1219956

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