[Congenital methemoglobinemia found in an adult. Case report].
Cyanosis in a 36 year old patient which persisted 20 years after a successful surgical closure of her patent foramen ovale has been finally diagnosed as due to congenital methemoglobinemia: a 28% level of methaemoglobin and no activity od NAD-dependent methaemoglobin reductase were found. Erythrocyte antioxidative system was studied i.e. glutathione peroxidase, reductase, transferase, superoxidase dismutase and glucose-6-phosphate dehydrogenase. Increased activity was disclosed of superoxide dismutase and glucose-6-phosphate dehydrogenase in erythrocytes in comparison to normal individuals as well as increased concentration of lipid peroxidation products coexisting with methaemoglobin reductase deficiency.
D000328:Adult; D003490:Cyanosis / Q000209:etiology*; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D008708:Methemoglobinemia / Q000097:blood / Q000150:complications / Q000151:congenital*; D013482:Superoxide Dismutase / Q000097:blood
D005954:Glucosephosphate Dehydrogenase; D013482:Superoxide Dismutase
Methemoglobinemia wrodzona wykryta u dorosłej chorej. Opis przypadku.