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Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Lenaig Abily-Donval1,2, Stéphanie Torre3, Aurélie Samson4

  • 1Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, 76000 Rouen, France. lenaig.abily-donval@chu-rouen.fr.

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|November 7, 2017
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Summary

Methylmalonyl-CoA epimerase deficiency, a rare metabolic disorder, can cause mild increases in methylmalonic acid. This case highlights isolated MCE deficiency presenting as metabolic acidosis in a child.

Keywords:
methylmalonic aciduriamethylmalonyl-CoA epimerasepropionic aciduria

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Methylmalonyl-CoA epimerase (MCE) is crucial for converting d-methylmalonyl-CoA to l-methylmalonyl-CoA within the propionyl-CoA to succinyl-CoA pathway.
  • Isolated MCE deficiency is rare, with only seven cases reported, exhibiting variable clinical presentations from asymptomatic to metabolic acidosis attacks.

Observation:

  • A five-year-old boy presented with acute metabolic acidosis, initially suspected as propionic aciduria (PA).
  • Propionyl-CoA carboxylase activity was normal, but intermittent, mild methylmalonic acid (MMA) excretion was detected.
  • Genetic analysis identified a homozygous nonsense pathogenic variant (c.139C > T-p.Arg47*) in the MCEE gene.

Findings:

  • This case confirms isolated MCE deficiency as a cause of metabolic acidosis.
  • The study identified a common homozygous pathogenic variant in the MCEE gene responsible for the deficiency.
  • Methylmalonic acid (MMA) elevations in MCE deficiency can be mild and intermittent, potentially leading to delayed diagnosis.

Implications:

  • MCE deficiency should be considered in the differential diagnosis of unexplained metabolic acidosis, especially with mild MMA elevations.
  • Further case reports are needed to fully elucidate the clinical spectrum and long-term impact of isolated MCE deficiency.
  • Understanding MCE's role aids in diagnosing and managing rare inborn errors of metabolism affecting the methylmalonic acid pathway.