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Open AccessCase Report
Int. J. Mol. Sci. 2017, 18(11), 2294;

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, 76000 Rouen, France
Normandie Université, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France
Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France
Service Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire de Lyon et UMR, 69677 Bron, France
Department of Genetics, Rouen University Hospital, 76000 Rouen, France
Hormonology and Biochemistry Department, Robert Debré Hospital, AP-HP, 75019 Paris, France
Author to whom correspondence should be addressed.
Received: 20 October 2017 / Revised: 30 October 2017 / Accepted: 30 October 2017 / Published: 1 November 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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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 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
Keywords: methylmalonyl-CoA epimerase; methylmalonic aciduria; propionic aciduria methylmalonyl-CoA epimerase; methylmalonic aciduria; propionic aciduria

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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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.

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