Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

@inproceedings{Woo2011ClinicalBA,
  title={Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency},
  author={Hye In Woo and Hyung Doo Park and Yong-Wha Lee and Dong Hwan Lee and Chang Seok Ki and Soo-Youn Lee and Jong Won Kim},
  booktitle={The Korean journal of laboratory medicine},
  year={2011}
}
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we… CONTINUE READING

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