Decreased leukocyte ferrochelatase activity in erythropoietic protoporphyria.
We studied the porphyrin metabolism of a 7-year-old Japanese boy with erythropoietic protoporphyria (EPP) and his family members. Leukocyte ferrochelatase activity was markedly decreased in this patient, being approximately 12% of the mean value of normal controls (4 aged-matched healthy boys). In contrast, leukocyte delta-aminolevulinic acid (ALA) synthase activity was normal. The free protoporphyrin content of erythrocytes was greatly increased (4.3 mg/100 ml RBC), while erythrocyte ALA dehydratase and porphobilinogen (PBG) deaminase activities were 1.7- and 2.2-fold of respective control values. A survey of his family revealed that 12 of 19 members probably had manifest EPP or were EPP carriers. These results suggest that, in EPP, there might be an inherited impairement of ferrochelatase activity which gives rise to an elevation of erythroblast ALA dehydratase and PBG deaminase activities to compensate for a resultant decrease in heme production.
Kondo
M
M
Ohe
M
M
Mizuguchi
M
M
D000624:5-Aminolevulinate Synthetase / Q000097:blood; D002648:Child; D004920:Erythropoiesis; D005294:Ferrochelatase / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008190:Lyases / Q000097:blood*; D008297:Male; D011164:Porphyrias / Q000201:enzymology*; D011166:Porphyrins / Q000032:analysis
D011166:Porphyrins; D000624:5-Aminolevulinate Synthetase; D008190:Lyases; D005294:Ferrochelatase