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KMID : 0918520090090010001
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Journal of the Korean Society of Inherited Metabolic Disease
2009 Volume.9 No. 1 p.1 ~ p.2
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A Case with MCAD Deficiency Identified by Neonatal Screen
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Jin Hye-Young
Lee Beom-Hee
Kim Gu-Hwan
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder with defect in mitochondrial fatty acid ß-oxidation. Manifestations of MCAD deficiency may vary as asymptomatic status, hypoketotic hypoglycemia, hepatic encephalopathy and sudden death. The expansion of newborn screening programs using MS/MS had led to the identification of individuals with milder abnormalities. Here we report an infant with MCAD deficiency identified by MS/MS and confirmed by molecular genetic analysis.
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