[Methemoglobinemia; a description of a case of NADH methemoglobulin reductase deficiency].
A case of NADH-methaemoglobin-reductase deficiency in a 64 year old man with marked cyanosis and without evidence of cardiac or pulmonary diseases is reported. The level of methaemoglobin was 36% and reached 25% after treatment with ascorbic acid. Erythrocyte NADH-methaemoglobin-reductase activity was only 5% of normal value. Some erythrocyte biochemical and enzymatic characteristics have been evaluated. A family study has also been carried out. Our patient has been considered homozygous for NADH-methaemoglobin-reductase deficiency.
D042966:Cytochrome-B(5) Reductase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D008297:Male; D008706:Methemoglobin / Q000032:analysis; D008708:Methemoglobinemia / Q000097:blood / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010375:Pedigree
D008706:Methemoglobin; D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase
La metaemoglobinemia; Descrizione di un caso da deficit di NADH-metaemoglobin-reduttasi.