A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
Journal of the Korean Pediatric Society
;
: 699-704, 2001.
Article
in Korean
| WPRIM
| ID: wpr-163492
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oxidoreductases
/
Cyanosis
/
Cytochrome-B(5) Reductase
/
Erythrocytes
/
Methemoglobinemia
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2001
Type:
Article
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