Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate
作者： Rimm Huh , Yechan Kyung , Younghee Kwun , Dong-Kyu Jin , Sung Yoon Cho
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摘要: , Soonchunhyang University School of Medicine, Seoul, KoreaMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which inherited as an autosomal recessive pattern. MCAD caused by mutations in ACADM gene; medium-chain gene (ACADM; OMIM 607008) on chromosome 1p31 encodes MCAD, enzyme catalyzes first reac-tion beta-oxidation acids with length. Here, we describe one Korean pediatric case deficiency, was diagnosed during newborn screening tandem mass spectro-metry and confirmed molecular analysis. The level hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, C8/C2 ratio elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation identified direct sequencing. He has been asymptomatic shown normal growth development 25 months age without any intervention. There no episode metabolic acidosis follow-up period.Kew words: Medium chain (MCAD), gene, Tandem spectrometry
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