Decreased haem synthetase activity in blood cells of patients with erythropoietic protoporphyria.
A constant finding in erythropoietic protoporphyria (E.P.P.) is a raised protoporphyrin content of the erythrocytes. It has been shown before that the biosynthesis of this protoporphyrin takes place in the erythroid cell. In circulating blood cells of patients with E.P.P. the haem synthetase activity is significantly decreased. This observation and the increased protoporphyrin concentration in the cells can be explained by assuming a decreased stability of haem synthetase in the red blood cells of E.P.P. patients.
D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007501:Iron; D008190:Lyases / Q000097:blood*; D008297:Male; D011164:Porphyrias / Q000097:blood / Q000201:enzymology*; D011166:Porphyrins / Q000097:blood*; D011524:Protoporphyrins / Q000097:blood*
D011166:Porphyrins; D011524:Protoporphyrins; D007501:Iron; D008190:Lyases