J Korean Pediatr Soc.
2001 Jun;44(6):699-704.
A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
- 2Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea.
- 3Department 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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