- Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
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Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW
- KMID: 1096662
- Korean J Lab Med.
- 2011 Jan;31(1):54-60.
- doi: 10.3343/kjlm.2011.31.1.54
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death... -
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