[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.