Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with sepiapterin reductase deficiency. The reported clin...

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Bibliographic Details
Main Authors: Lenaig Abily-Donval, Stéphanie Torre, Aurélie Samson, Bénédicte Sudrié-Arnaud, Cécile Acquaviva, Anne-Marie Guerrot, Jean-François Benoist, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Format: Article
Language:English
Published: MDPI AG 2017-11-01
Series:International Journal of Molecular Sciences
Subjects:
methylmalonyl-CoA epimerase
methylmalonic aciduria
propionic aciduria
Online Access:https://www.mdpi.com/1422-0067/18/11/2294

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https://www.mdpi.com/1422-0067/18/11/2294

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