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J Korean Pediatr Soc. 2001 Jun;44(6):699-704. Korean. Case Report.
Kim DH , Lee JA , Lee SJ , Jo HS , Lee YK , Park JD , Kim BI , Choi JH , Lee DS , Cho HI , Park KR .
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea.
Department of Pediatrics, Bomvit Hospital, Anyang, Korea.
Abstract

Congenital methemoglobinemia is caused by NADH-methemoglobin reductase deficiency in more than half of the total reported cases. NADH-methemoglobin reductase deficiency is an uncommon hereditary disorder producing methemoglobinemia and cyanosis in the homozygous subject. A majority of the patients born with these abnormalities have only a cosmetic defect-asymptomatic cyanosis. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency is an autosomal recessive disorder and classified into 4 types according to the pathophysiology of the disorder. In type I, the deficiency of NADH-methemoglobin reductase is restricted to erythrocytes of patients with mild cyanosis, and 7 missence mutations have been reported in the case of type I. We report the first Korean pediatric case of type I congenital methemoglobinemia due to NADH- methemoglobin reductase deficiency with a review of the literature.

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