Associated red cell enzyme deficiencies and their significance in a case of congenital enzymopenic methemoglobinemia.
Schlüsselwörter
Abstrakt
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.