Article

Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency

2018-11-30

Abstract excerpt

Human methylmalonyl-CoA epimerase ( MCEE ) catalyzes the interconversion of D-methylmalonyl-CoA and L-methylmalonyl-CoA in propionate catabolism. Autosomal recessive mutations in MCEE reportedly cause methylmalonic aciduria (MMAuria) in eleven patients. We investigated a cohort of 150 individuals suffering from MMAuria of unknown origin, identifying ten new patients with mutations in MCEE . Nine patients were h...

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Literature Corpus work: 1924f694-b1f0-58cb-a6d4-af69dc261b5e
DOI: 10.1101/484048

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