IJMS, Vol. 18, Pages 2294: Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

IJMS, Vol. 18, Pages 2294: Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

International Journal of Molecular Sciences doi: 10.3390/ijms18112294

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

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.

from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2ijRCdT
via IFTTT