A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency.
- Author:
Do Hyeon KIM
1
;
Jin A LEE
;
Sung Jae LEE
;
Heui Seung JO
;
Yun Kyoung LEE
;
June Dong PARK
;
Beyong Il KIM
;
Jung Hwan CHOI
;
Dong Soon LEE
;
Han Ik CHO
;
Kyung Ran PARK
Author Information
1. Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Congenital methemoglobinemia;
NADH-methemoglobin reductase deficiency
- MeSH:
Cyanosis;
Cytochrome-B(5) Reductase;
Erythrocytes;
Humans;
Methemoglobinemia*;
Oxidoreductases*
- From:Journal of the Korean Pediatric Society
2001;44(6):699-704
- CountryRepublic of Korea
- Language:Korean
-
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.
