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3-methylcrotonyl-CoA accumulates and is eventually converted into 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, which are typically elevated in this disease. MCCC2 mutations were reported to be 1.7 times more common than MCCC1 mutations, as found in a cohort study of 53 newborns [3]. Of the genetic mutations reported in Korean patients, 75% have been found within MCCC2 [4,5]. Infants carrying a mutation identified by neonatal screening usually appear to be asymptomatic and remain healthy. However, some patients are reported to present with hypotonia, encephalopathy, seizure, failure to thrive, cardiomyopathy, and late onset severe metabolic decompensation with metabolic acidosis and hypoglycemia [1,6-9]. In this report, we present the clinical characteristics, laboratory findings and molecular analysis of a patient possessing novel heterozygous mutations of MCCC1. Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency