Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
Makaleler > Tam Makale · 2022
Yazarlar: Havva YAZICI, Ebru Canda, Hüseyin Onay, Sema KALKAN UÇAR, Sara Habif, Mahmut ÇOKER
Turkish Journal of Pediatrics, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2022, cilt 64, ss 946-946
DOI: 10.24953/turkjped.2021.245
Özet
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 life-threatening 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.