Skip to main content
NCBI home page
The Yale Journal of Biology and Medicine logoLink to The Yale Journal of Biology and Medicine
. 1979 Sep-Oct;52(5):449–454.

Comparison of human and bovine protoporphyria.

D A Brenner, J R Bloomer
PMCID: PMC2595781  PMID: 392959

Abstract

Protoporphyria (PP) is an inherited disorder of porphyrin metabolism in man in which there is excessive accumulation and excretion of protoporphyrin. Recently, a similar disorder has been described in cattle. In this report, the clinical, biochemical, and genetic features of bovine and human PP are compared. Human and bovine PP are characterized by photosensitivity and elevation of erythrocyte and fecal protoporphyrin levels. In both disorders, a deficiency of heme synthase activity is present in all tissues which have been examined. The diseases differ clinically in that hepatobiliary disease has been found thus far only in human PP. They also have different inheritance patterns. Human PP is an autosomal dominant disease, while initial studies strongly suggest that there is an autosomal recessive pattern of inheritance in bovine PP.

Full text

PDF
449

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bloomer J. R., Bonkowsky H. L., Ebert P. S., Mahoney M. J. Inheritance in protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features. Lancet. 1976 Jul 31;2(7979):226–228. doi: 10.1016/s0140-6736(76)91027-8. [DOI] [PubMed] [Google Scholar]
  2. Bloomer J. R., Brenner D. A., Mahoney M. J. Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyria. J Clin Invest. 1977 Dec;60(6):1354–1361. doi: 10.1172/JCI108895. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bloomer J. R. Pathogenesis and therapy of liver disease in protoporphyria. Yale J Biol Med. 1979 Jan-Feb;52(1):39–48. [PMC free article] [PubMed] [Google Scholar]
  4. Bloomer J. R., Phillips M. J., Davidson D. L., Klatskin G., Bloomer Hepatic disease in erythropoietic protoporphyria. Am J Med. 1975 Jun;58(6):869–882. doi: 10.1016/0002-9343(75)90644-0. [DOI] [PubMed] [Google Scholar]
  5. Bloomer J. R. The hepatic porphyrias: pathogenesis, manifestations, and management. Gastroenterology. 1976 Oct;71(4):689–701. [PubMed] [Google Scholar]
  6. Bonkowsky H. L., Bloomer J. R., Ebert P. S., Mahoney M. J. Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest. 1975 Nov;56(5):1139–1148. doi: 10.1172/JCI108189. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Bottomley S. S., Tanaka M., Everett M. A. Diminished erythroid ferrochelatase activity in protoporphyria. J Lab Clin Med. 1975 Jul;86(1):126–131. [PubMed] [Google Scholar]
  8. Brodie M. J., Moore M. R., Goldberg A. Enzyme abnormalities in the porphyrias. Lancet. 1977 Oct 1;2(8040):699–701. doi: 10.1016/s0140-6736(77)90507-4. [DOI] [PubMed] [Google Scholar]
  9. Clark K. G., Nicholson D. C. Erythrocyte protoporphyrin and iron uptake in erythropoietic protoporphyria. Clin Sci. 1971 Oct;41(4):363–370. doi: 10.1042/cs0410363. [DOI] [PubMed] [Google Scholar]
  10. Cripps D. J., MacEachern W. N. Hepatic and erythropoietic protoporphyria. Delta-aminolevulinic acid synthetase, fluorescence, and microfluorospectrophotometric study. Arch Pathol. 1971 Jun;91(6):497–505. [PubMed] [Google Scholar]
  11. Cripps D. J., Scheuer P. J. Hepatobiliary changes in erythropoietic protoporphyria. Arch Pathol. 1965 Nov;80(5):500–508. [PubMed] [Google Scholar]
  12. DeLeo V. A., Poh-Fitzpatrick M., Mathews-Roth M., Harber L. C. Erythropoietic protoporphyria. 10 years experience. Am J Med. 1976 Jan;60(1):8–22. doi: 10.1016/0002-9343(76)90528-3. [DOI] [PubMed] [Google Scholar]
  13. Epstein J. H., Tuffanelli D. L., Epstein W. L. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973 May;107(5):689–698. [PubMed] [Google Scholar]
  14. Flyger V., Levin E. Y. Animal model: normal porphyria of fox squirrels (Sciurus niger). Am J Pathol. 1977 Apr;87(1):269–272. [PMC free article] [PubMed] [Google Scholar]
  15. HAEGER-ARONSEN B. ERYTHROPOIETIC PROTOPORPHYRIA. A NEW TYPE OF INBORN ERROR OF METABOLISM. Am J Med. 1963 Oct;35:450–454. doi: 10.1016/0002-9343(63)90144-x. [DOI] [PubMed] [Google Scholar]
  16. Klatskin G., Bloomer J. R. Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity of polarization microscopy in the identification of hepatic protoporphyrin deposits. Gastroenterology. 1974 Aug;67(2):294–302. [PubMed] [Google Scholar]
  17. Levin E. Y. Comparative aspects of porphyria in man and animals. Ann N Y Acad Sci. 1974 Nov 29;241(0):347–359. doi: 10.1111/j.1749-6632.1974.tb21892.x. [DOI] [PubMed] [Google Scholar]
  18. MAGNUS I. A., JARRETT A., PRANKERD T. A., RIMINGTON C. Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia. Lancet. 1961 Aug 26;2(7200):448–451. doi: 10.1016/s0140-6736(61)92427-8. [DOI] [PubMed] [Google Scholar]
  19. Mathews-Roth M. M. Letter: Anemia in erythropoietic protoporphyria. JAMA. 1974 Nov 11;230(6):824–824. [PubMed] [Google Scholar]
  20. Perlroth M. G., Tschudy D. P., Ratner A., Spaur W., Redeker A. The effect of diet in variegate (South African genetic) porphyria. Metabolism. 1968 Jul;17(7):571–581. doi: 10.1016/0026-0495(68)90015-2. [DOI] [PubMed] [Google Scholar]
  21. Peterka E. S., Fusaro R. M., Goltz R. W. Erythropoietic protoporphyria. II. Histological and histochemical studies of cutaneous lesions. Arch Dermatol. 1965 Oct;92(4):357–361. doi: 10.1001/archderm.92.4.357. [DOI] [PubMed] [Google Scholar]
  22. Pimstone N. R., Webber B. L., Blekkenhorst G. H., Eales L. The hepatic lesion in protoporphyria (PP): preliminary studies of haem metabolism, liver structure and ultrastructure. Ann Clin Res. 1976;8 (Suppl 17):122–132. [PubMed] [Google Scholar]
  23. Piomelli S., Lamola A. A., Poh-Fitzpatrick M. F., Seaman C., Harber L. C. Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro. J Clin Invest. 1975 Dec;56(6):1519–1527. doi: 10.1172/JCI108233. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. RUTH G. R., Schwartz S., Stephenson B. Bovine protoporphyria: the first nonhuman model of this hereditary photosensitizing disease. Science. 1977 Oct 14;198(4313):199–201. doi: 10.1126/science.905823. [DOI] [PubMed] [Google Scholar]
  25. Redeker A. G., Sterling R. E. The "glucose effect" in erythropoietic protoporphyria. Arch Intern Med. 1968 May;121(5):446–448. [PubMed] [Google Scholar]
  26. Reed W. B., Wuepper K. D., Epstein J. H., Redeker A., Simonson R. J., McKusick V. A. Erythropoietic protoporphyria. A clinical and genetic study. JAMA. 1970 Nov 9;214(6):1060–1066. doi: 10.1001/jama.214.6.1060. [DOI] [PubMed] [Google Scholar]
  27. Schmidt H., Snitker G., Thomsen K., Lintrup J. Erythropoietic protoporphyria. A clinical study based on 29 cases in 14 families. Arch Dermatol. 1974 Jul;110(1):58–64. doi: 10.1001/archderm.110.1.58. [DOI] [PubMed] [Google Scholar]
  28. Schwartz S., Johnson J. A., Stephenson B. D., Anderson A. S., Edmondson P. R., Fusaro R. M. Erythropoietic defects in protoporphyria: a study of factors involved in labelling of porphyrins and bile pigments from ALA- 3 H and glycine- 14 C. J Lab Clin Med. 1971 Sep;78(3):411–434. [PubMed] [Google Scholar]
  29. Scott A. J., Ansford A. J., Webster B. H., Stringer H. C. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med. 1973 Feb;54(2):251–259. doi: 10.1016/0002-9343(73)90230-1. [DOI] [PubMed] [Google Scholar]
  30. Slater T. F., Riley P. A. Photosensitization and lysosomal damage. Nature. 1966 Jan 8;209(5019):151–154. doi: 10.1038/209151a0. [DOI] [PubMed] [Google Scholar]
  31. TSCHUDY D. P., WELLAND F. H., COLLINS A., HUNTER G., Jr THE EFFECT OF CARBOHYDRATE FEEDING ON THE INDUCTION OF DELTA-AMINOLEVULINIC ACID SYNTHETASE. Metabolism. 1964 May;13:396–406. doi: 10.1016/0026-0495(64)90113-1. [DOI] [PubMed] [Google Scholar]
  32. Takaku F., Yano Y., Aoki Y., Nakao K., Wada O. -Aminolevulinic acid synthetase activity of human bone marrow erythroid cells in various hematological disorders. Tohoku J Exp Med. 1972 Jul;107(3):217–228. doi: 10.1620/tjem.107.217. [DOI] [PubMed] [Google Scholar]
  33. Turnbull A., Baker H., Vernon-Roberts B., Magnus I. A. Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. Q J Med. 1973 Apr;42(166):341–355. [PubMed] [Google Scholar]
  34. Watson C. J., Pierach C. A., Bossenmaier I., Cardinal R. Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias. Proc Natl Acad Sci U S A. 1977 May;74(5):2118–2120. doi: 10.1073/pnas.74.5.2118. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. de Goeij A. F., Christianse K., van Steveninck J. Decreased haem synthetase activity in blood cells of patients with erythropoietic protoporphyria. Eur J Clin Invest. 1975 Sep 12;5(5):397–400. doi: 10.1111/j.1365-2362.1975.tb00470.x. [DOI] [PubMed] [Google Scholar]

Articles from The Yale Journal of Biology and Medicine are provided here courtesy of Yale Journal of Biology and Medicine

RESOURCES