Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
AbstractMethylmalonyl-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 clinical pictures of isolated MCE are variable, with two asymptomatic patients and two other patients presenting with metabolic acidosis attacks. For combined MCE and sepiapterin reductase deficiency, the clinical picture is dominated by neurologic alterations. We report isolated MCE deficiency in a boy who presented at five years of age with acute metabolic acidosis. Metabolic investigations were consistent with propionic aciduria (PA). Unexpectedly, propionyl-CoA carboxylase activity was within the reference range. Afterward, apparently intermittent and mild excretion of methylmalonic acid (MMA) was discovered. Methylmalonic pathway gene set analysis using the next-generation sequencing approach allowed identification of the common homozygous nonsense pathogenic variant (c.139C > T-p.Arg47*) in the methylmalonyl-CoA epimerase gene (MCEE). Additional cases of MCE deficiency may help provide better insight regarding the clinical impact of this rare condition. MCE deficiency could be considered a cause of mild and intermittent increases in methylmalonic acid. View Full-Text
Scifeed alert for new publicationsNever miss any articles matching your research from any publisher
- Get alerts for new papers matching your research
- Find out the new papers from selected authors
- Updated daily for 49'000+ journals and 6000+ publishers
- Define your Scifeed now
Abily-Donval, L.; Torre, S.; Samson, A.; Sudrié-Arnaud, B.; Acquaviva, C.; Guerrot, A.-M.; Benoist, J.-F.; Marret, S.; Bekri, S.; Tebani, A. Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. Int. J. Mol. Sci. 2017, 18, 2294.
Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot A-M, Benoist J-F, Marret S, Bekri S, Tebani A. Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. International Journal of Molecular Sciences. 2017; 18(11):2294.Chicago/Turabian Style
Abily-Donval, Lenaig; Torre, Stéphanie; Samson, Aurélie; Sudrié-Arnaud, Bénédicte; Acquaviva, Cécile; Guerrot, Anne-Marie; Benoist, Jean-François; Marret, Stéphane; Bekri, Soumeya; Tebani, Abdellah. 2017. "Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria." Int. J. Mol. Sci. 18, no. 11: 2294.
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.