Generalized deficiency of the NADH-methemoglobin reductase in congenital methemoglobinemia with neurological symptoms.
Determination of the NADH-methemoglobin reductase (NADH-metHb-R) activity in red cells, lymphocytes and platelets of a two year old Polish girl with congenital methemoglobinemia and severe damage of the central nervous system, as well as in control subjects, was performed. The results permitted us to diagnose a rare case of the generalized deficiency of the NADH-metHb-R.
D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D002675:Child, Preschool; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital / Q000201:enzymology*; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase