Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
Articles > Article · 2022
Authors: Havva YAZICI, Ebru CANDA, Hüseyin Onay, Sema KALKAN UÇAR, Sara HABİF, Mahmut Çoker
The Turkish Journal of Pediatrics, International, WoS, 2022, vol 64, pp 946-950
DOI: 10.24953/turkjped.2021.245
Summary
BACKGROUND: Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation attacks. CASE: Herein we report a patient diagnosed with MCE deficiency with recurrent acute metabolic ketoacidosis attacks and moderate MMA-uria that persisted in periods without decompensation. At presentation, organic acid profiles were dominated by increased 3 hydroxybutyrate. CONCLUSIONS: 3-Oxothiolase deficiency as a main ketolysis defects disorder was initially suspected. However, the subsequently repeated organic acid analyses demonstrated mild and persistent elevation of methylmalonic acid. This report provides a new phenotype of the clinical and biochemical characterization of MCE deficiency.