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Original Article

The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card

Baeck Hee Lee, Hye Won Park, Moon Soo Park, Ho Jin Park, Yong Choi, Hae Il Cheong

Clin Exp Pediatr. 1997;40(12):1645-1650. Published online December 15, 1997

Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However,...

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