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Title: Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency. Author: Yazıcı H, Canda E, Onay H, Uçar SK, Habif S, Çoker M. Journal: Turk J Pediatr; 2022; 64(5):946-950. PubMed ID: 36305448. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]