Haem biosynthesis in cutaneous hepatic porphyria: comparison with alcoholism and liver disease.
The enzymes of haem biosynthesis have been measured in the peripheral blood of 13 patients with cutaneous hepatic porphyria. The activity of leucocyte delta-aminolaevulinic acid synthase was significantly elevated (p less than 0.001) as was that of erythrocyte porphobilinogen deaminase (p less than 0.05). Leucocyte ferrochelatase activity was depressed (p less than 0.001) and the activity of erythrocyte uroporphyrinogen decarboxylase did not significantly differ from control values. Similar enzyme activities were assayed in 12 chronic alcoholics and 8 patients with liver disease and the results differed markedly from those obtained from the porphyric patients. It is unlikely that the raised leucocyte delta-amino-laevulinic acid synthase activity can be attributed to alcohol ingestion or liver disease. A defect in the activity of uroporphyrinogen decarboxylase may exist in cutaneous hepatic porphyria but this could not be demonstrated in erythrocytes in this study.
D000624:5-Aminolevulinate Synthetase / Q000032:analysis; D000622:Aminolevulinic Acid / Q000652:urine; D003306:Coproporphyrins / Q000652:urine; D004912:Erythrocytes / Q000201:enzymology; D005294:Ferrochelatase / Q000032:analysis; D006418:Heme / Q000096:biosynthesis*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000032:analysis; D007962:Leukocytes / Q000201:enzymology; D008108:Liver Diseases, Alcoholic / Q000201:enzymology; D008297:Male; D011162:Porphobilinogen / Q000652:urine; D000623:Porphobilinogen Synthase / Q000032:analysis; D011164:Porphyrias / Q000201:enzymology / Q000378:metabolism* / Q000652:urine; D014575:Uroporphyrinogen Decarboxylase / Q000032:analysis
D003306:Coproporphyrins; D006418:Heme; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D000624:5-Aminolevulinate Synthetase; D011163:Hydroxymethylbilane Synthase; D014575:Uroporphyrinogen Decarboxylase; D000623:Porphobilinogen Synthase; D005294:Ferrochelatase