Associated red cell enzyme deficiencies and their significance in a case of congenital enzymopenic methemoglobinemia.
Examination of the red cell enzyme profile in a case of congenital methemoglobinemia has shown associated deficiencies of glutathione reductase (GR) and glutathione peroxidase (GSHPx) in addition to NADH-methemoglobin reductase deficiency. Contrary to expectations, GR and GSHPx deficiencies do not seem to have contributed to the methemoglobinemia in this case. The lack of symptoms in spite of a high methemoglobin (Hi) level (35%) appears to be due to the restriction of Hi to a small percentage of red cells.
D000328:Adult; D042966:Cytochrome-B(5) Reductase / Q000097:blood / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology*; D005979:Glutathione Peroxidase / Q000097:blood / Q000172:deficiency*; D005980:Glutathione Reductase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000201:enzymology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010544:Peroxidases / Q000172:deficiency*
D010544:Peroxidases; D005979:Glutathione Peroxidase; D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase; D005980:Glutathione Reductase