54. Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Two Korean Patients: Case Reports and Identification of a Novel ACADM Mutation
Poster: Tue 6:30-7:30PM
Yong-Wha Lee
Soonchunhyang University
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Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid ©¬-oxidation. Here we describe two Korean patients with MCADD detected by newborn screening test with tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines were typically elevated. Molecular study revealed that patient 1 was compound heterozygous for p.Thr150fsX4 and p.L154W mutations and patient 2 was compound heterozygous for p.Thr150fsX4 and p.Y397N mutations. This report presents biochemical and molecular features of MCADD in Korean patients and this is the first report of c.461T>G mutation in ACADM gene.