Biochemie und Pathobiochemie: Methylmalonyl-CoA-Epimerase-Defizienz

Ursächlich sind autosomal-rezessive Mutationen im Gen MCEE (2p13.3), das für die Methylmalonyl-CoA-Epimerase kodiert.

Das Enzym katalysiert die Epimerisierung von D-Methylmalonyl-CoA zu L-Methylmalonyl-CoA im Rahmen der Verwertung von Propionyl-CoA.

• Wahrscheinlich asymptomatisch („nondisease“).
• Methylmalonacidurie

• Gradinger AB, Bélair C, Worgan LC, et al.. “Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)”. Hum. Mutat., 28:1045, October 2007. DOI:10.1002/humu.9507. PMID 17823972.
• Dobson CM, Gradinger A, Longo N, et al.. “Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria”. Mol. Genet. Metab., 88:327–33, August 2006. DOI:10.1016/j.ymgme.2006.03.009. PMID 16697227.
• Bikker H, Bakker HD, Abeling NG, et al.. “A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria”. Hum. Mutat., 27:640–3, July 2006. DOI:10.1002/humu.20373. PMID 16752391.

• OMIM