Yazici, HavvaCanda, EbruOnay, HuseyinUcar, Sema KalkanHabif, SaraCoker, Mahmut2023-01-122023-01-1220220041-4301https://doi.org/10.24953/turkjped.2021.245https://search.trdizin.gov.tr/tr/yayin/detay/1139253https://hdl.handle.net/11454/78296Background. 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.en10.24953/turkjped.2021.245info:eu-repo/semantics/openAccessmethylmalonyl-CoA epimerasemethylmalonic aciduriaketosisHomozygous Nonsense MutationGeneArticle6459469501139253WOS:0008776803000192-s2.0-8514028872036305448Q3Q4