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