A Suspect Case of Medium Chanin Acyl-Coenzyme A Dehydrogenase Deficiency with Iron Deficiency Anemia / 대한소아혈액종양학회지

ABSTRACT

Iron deficiency anemia is a common disorder during infancy and childhood. Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. However, this metabolic disorder is extremely rare among Asians. Generally MCAD deficiency patients are healthy until initial presentation of hypoketogenic hypoglycemia and encephalopathy which is predisposed by an intercurrent illness and/or a period of poor oral intake. The first attack causes a high risk of mortality or permanent neurologic sequelae. The authors report a suspect case of MCAD deficiency with iron deficiency anemia, with a brief review of related literatures.