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Congenital porphyria in siblings

With a brief review of congenital and hereditary porphyrias

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Summary

  1. 1.

    A brief review of porphyria has been given.

  2. 2.

    Full clinical details of two cases of congenital porphyria occurring in male siblings are presented.

  3. 3.

    Studies on the urinary porphyrins in one sibling (A.S.C.) using paper chromatography and paper electrophoretic techniques have been carried out.

  4. 4.

    The presence in the urine of uro-and copro-porphyrins as well as two other porphyrins with five, six or seven carboxylic groups have been revealed by such studies.

  5. 5.

    Separation and identification of the esters will be described at a later date.

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References

  1. Aldrich, R. A. V., Hawkinson, V., Grinstein, M., andWatson, C. J.—Photosensitive or congenital porphyria with hemolytic anaemia.Blood,6: 685, 1951.

    PubMed  CAS  Google Scholar 

  2. Carnivet, J., andRimington, C.—A chromatographic study of uroporphyrins from cases of cutaneous, acute and congenital porphyria.Biochem. J.,55: 867, 1953.

    Google Scholar 

  3. Chu, T. C., Green, A. A., andChu, E. J.—Paper chromatography of methyl esters of of porphyrins.J. Biol. Chem.,190: 643, 1951.

    PubMed  CAS  Google Scholar 

  4. Dean, G., andBarnes, H. D.—Porphyria.Brit. Med. J., Feb. 8, 298, 1958.

    Article  Google Scholar 

  5. Discombe, G. andTreip, C. S.—Cutaneous manifestations of porphyria.Brit. Med. J., Nov. 21, 1134, 1953.

    Google Scholar 

  6. Dunsky, I., Freeman, S. andGibson, S.—Porphyria and porphyrinuria.Amer. J. Dis. Child.,74: 305, 1947.

    CAS  Google Scholar 

  7. Ericksen, L.Scand. J. Clin. Lab. Invest.,5: 155, 1953. Quoted byFalk in Biochem. Soc. Symp. on Chemical Pathology of Animal Pigments.

    Article  Google Scholar 

  8. Falk, J. E.—Patterns of porphyrin excretion in Biochem. Soc. Symp. on Chemical Pathology of Animal Pigments, No. 12, p. 17.Cambridge Univ. Press, 1954.

  9. Falk, J. E., andBenson, A.—Separation of uro-porphyrin esters I and III by paper chromatography.Biochem. J.,55: 101, 1953.

    PubMed  CAS  Google Scholar 

  10. Falk, J. E., andWillis, J. B.Aust. J. Sci. Res.,4: 579, 1951.

    Google Scholar 

  11. Findlay, G. H. andBarnes H. D.—Congenital porphyria, hydroa acstivale and hypertrichosis in a South African Bantu.Lancet,2: 846, 1950.

    Article  PubMed  CAS  Google Scholar 

  12. Goadby, H. K.—Porphyria.Med. Annu., p. 232.Wright,Bristol, 1955.

    Google Scholar 

  13. Gray, C. H., andNeuberger, A.Lancet,1: 851, 1952, quoted byLedingham, U.,Med. Annu.,8: 336,Wright,Bristol, 1953.

    Article  PubMed  CAS  Google Scholar 

  14. Grinstein, M., Watson, C. J., andSchwartz, S.—Studies of the uroporphyrins. The purification of uro-porphyrin I and the nature of “Waldenström Uroporphyrin” as isolated from porphyria material.J. Biol. Chem.,157: 323, 1945.

    CAS  Google Scholar 

  15. Guenther, H.Dtsch. Arch. Klin. Med., 105: 89, 1912, quoted byVannotti.

    Google Scholar 

  16. Jope, E. M. andO'Brien, J. R. P.—Spectral absorption and fluorescence of coproporphyrin isomers I and III and the melting points of their methyl esters.Biochem. J.,39: 239, 1945.

    PubMed  CAS  Google Scholar 

  17. Kennard, O. andRimington, C.—Identification and classification of some porphyrins on the basis of their X-ray diffraction patterns.Biochem. J.,55: 105, 1953.

    PubMed  CAS  Google Scholar 

  18. Kitagawa, K.—Über Hämatoporphyria congenita “Hans Günther” und ihre experimentalle Utersuchung.,Jap. J. Dermat. Urol.,27: 43, 1927 quoted byStich.

    Google Scholar 

  19. Matsuoka, K.—Über Haematoporphyria congenita.—Jap. J. Dermat. Urol.,28: 38, 1926 quoted byStich.

    Google Scholar 

  20. Muir, Helen, M.—Normal and pathological metabolism of porphyrins in Biochem. Soc. Symp. on the Chemical Pathology of Animal Pigments, No. 12, p. 4,Cambridge Univ. Press, 1954.

  21. Nicholas, R. E. M.—Chromatographic methods for the separation and identification of porphyrins.Biochem. J.,48: 309, 1951.

    PubMed  CAS  Google Scholar 

  22. Nicholas, R. E. M., andRimington, C.—Qualitative analysis of the porphyrins by partition chromatography.Scand. J. Clin. Lab. Invest.,1: 12, 1949.

    Article  PubMed  CAS  Google Scholar 

  23. Nicholas, R. E. M., andRimington, C.—Paper chromatography of porphyrins: Some hitherto unrecognised porphyrins and further notes on the method.Biochem. J.,48: 306, 1951.

    PubMed  CAS  Google Scholar 

  24. Nicholas, R. E. M. andRimington, C.—Studies on the “Waldenström porphyria of acute porphyria urines.Biochem. J.,55: 109, 1953.

    PubMed  CAS  Google Scholar 

  25. Prunty, F. I. G.—Porphyria. Med. Annu., p. 291.Wright,Bristol, 1952.

    Google Scholar 

  26. Ranking, J. E. andPardington, S. L.—Two cases of haematoporphyrin in the urine.Lancet,2: 607, 1890, quoted byVannotti.

    Article  Google Scholar 

  27. Rimington, C.—Quantitative method for the determination of uroporphyrins in pathological urines.Biochem. J.,37: 443, 1943.

    PubMed  CAS  Google Scholar 

  28. Idem. Rimington, C.—Introduction to Biochem. Soc. Symp. on the Chemical Pathology of Animal Pigments, No. 12, p. 1.Cambridge Univ. Press, 1954.

  29. Idem. —Correspondence,Brit. Med. J., March 15, 640, 1958.

    Google Scholar 

  30. Rimington, C. andMiles, P. A.—A study of the porphyrins excreted in the urine by a case of congenital porphyria.Biochem. J.,50: 202, 1951.

    PubMed  CAS  Google Scholar 

  31. Rimington, C. andSveinsson, S. L.—The spectrophotometric determination of uro-porphyrins.Scand. J. Clin. Lab. Inves.,2: 209, 1950.

    Article  CAS  Google Scholar 

  32. Sato, A, andTakahashi, H.—A new form of congenital hematoporphyria.Amer. J. Dis. Child.,32: 325, 1926, quoted byStich.

    Google Scholar 

  33. Schmid, R., Schwartz, S. andSundberg, R. D.—Erythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.Blood,10: 416, 1955.

    PubMed  CAS  Google Scholar 

  34. Schmid, R., Schwartz, S. andWatson, C. J.—Porphyrin content of bone marrow and liver in the various forms of porphyria.Arch. intern. med.,93: 167, 1954, quoted byStich.

    CAS  Google Scholar 

  35. Schwartz, S., Hawkinson, V. E., Cohen, S. andWatson, C. J.—A micromethod for the quantitative determination of the urinary coproporphyrin isomers (I & III).,J. Biol. Chem.,168: 133, 1947.

    CAS  Google Scholar 

  36. Stich, V.—Kongenitale und hereditäre Porphyrien.Mod. Probl. Paedial.,3: 139,S. Karger,Basel, 1957.

    Google Scholar 

  37. Taneja, P. N. andSeth, R. K.—Congenital Porphyria.Indian J. Child Hlth.,8: 707, 1956.

    Google Scholar 

  38. Vannotti, A.—Porphyrins. Their biological and chemical importance. Trans. byC. Rimington.Hilger and Watts,London, 1954.

    Google Scholar 

  39. Waldenstroem, J.Acta med. Scand.,83: 281, 1934, quoted byVannotti.

    Google Scholar 

  40. Idem.Waldenstroem, J.Acta. med. Scand., Suppl. 82, 1937, quoted byDean and Barnes.

  41. Watson, C. J. andSchwartz, S.—A simple test for urinary porphobilinogen.Proc. Soc. Exp. Biol. Med.,47: 393, 1941.

    CAS  Google Scholar 

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Chaudhuri, A., Chaudhuri, J.N. & Chaudhuri, K.C. Congenital porphyria in siblings. Indian J Pediatr 25, 157–172 (1958). https://doi.org/10.1007/BF02903014

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