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

Journal of the Korean Pediatric Society 2001;44(6):699-704.
Published online June 15, 2001.
A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
Do Hyeon Kim1, Jin A Lee1, Sung Jae Lee1, Heui Seung Jo1, Yun Kyoung Lee1, June Dong Park1, Beyong Il Kim1, Jung-Hwan Choi1, Dong Soon Lee2, Han Ik Cho2, Kyung Ran 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
NADH-Methemoglobin Reductase 결핍에 의한 선천성 Methemoglobin 혈증 1례
김도현1, 이진아1, 이성재1, 조희승1, 이윤경1, 박준동1, 김병일1, 최중환1, 이동순2, 조한익2, 박경란3
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 임상병리학교실
3봄빛병원 소아과
Correspondence: 
Jung-Hwan 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.
Key Words: Congenital methemoglobinemia, NADH-methemoglobin reductase deficiency


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