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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,... |
