Diminished erythroid ferrochelatase activity in protoporphyria.
In two patients with protoporphyria the enzymatic synthesis of aminolevulinic acid and prophobilinogen in erythroid tissue was normal. Boine marrow ferrochelatase activity was less than one-fourth of the mean activity in normal control subjects. Ferrochelatase activity in peripheral blood reticulocytes was less than 10% of controls. This metabolic abnormality provides one biochemical explanation for the increased concentrations of blood protoporphyrin in protoporphyria and clarifies the apparent minimally impaired hemoglobin synthesis in the two case studies.
D000624:5-Aminolevulinate Synthetase / Q000097:blood; D000328:Adult; D001853:Bone Marrow / Q000201:enzymology; D001854:Bone Marrow Cells; D002845:Chromatography; D004900:Erythroblasts / Q000201:enzymology; D005243:Feces / Q000032:analysis; D005470:Fluorometry; D006801:Humans; D007504:Iron Radioisotopes; D008190:Lyases / Q000097:blood*; D008297:Male; D011162:Porphobilinogen / Q000652:urine; D000623:Porphobilinogen Synthase / Q000097:blood; D011164:Porphyrias / Q000201:enzymology*; D011166:Porphyrins / Q000032:analysis / Q000097:blood / Q000652:urine; D012156:Reticulocytes / Q000201:enzymology
D007504:Iron Radioisotopes; D011166:Porphyrins; D011162:Porphobilinogen; D000624:5-Aminolevulinate Synthetase; D008190:Lyases; D000623:Porphobilinogen Synthase