All issues > Volume 44(6); 2001

Case Report

J Korean Pediatr Soc. 2001;44(6):699-704. Published online June 15, 2001.

A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency

Do Hyeon DH Kim¹, Jin A JA Lee¹, Sung Jae SJ Lee¹, Heui Seung HS Jo¹, Yun Kyoung YK Lee¹, June Dong JD Park¹, Beyong Il BI Kim¹, Jung-Hwan JH Choi¹, Dong Soon DS Lee², Han Ik HI Cho², Kyung Ran KR Park³

¹Departments of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
²Departments of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea
³Department of Pediatrics, Bomvit Hospital, Anyang, Korea

Correspondence Jung-Hwan JH Choi ,Email: neona@plaza.snu.ac.kr

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.

Keywords :Congenital methemoglobinemia, NADH-methemoglobin reductase deficiency