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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5713264/
https://ncbi.nlm.nih.gov/pubmed/29104221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18112294
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