Summary
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1.
A brief review of porphyria has been given.
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2.
Full clinical details of two cases of congenital porphyria occurring in male siblings are presented.
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3.
Studies on the urinary porphyrins in one sibling (A.S.C.) using paper chromatography and paper electrophoretic techniques have been carried out.
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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.
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5.
Separation and identification of the esters will be described at a later date.
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References
Aldrich, R. A. V., Hawkinson, V., Grinstein, M., andWatson, C. J.—Photosensitive or congenital porphyria with hemolytic anaemia.Blood,6: 685, 1951.
Carnivet, J., andRimington, C.—A chromatographic study of uroporphyrins from cases of cutaneous, acute and congenital porphyria.Biochem. J.,55: 867, 1953.
Chu, T. C., Green, A. A., andChu, E. J.—Paper chromatography of methyl esters of of porphyrins.J. Biol. Chem.,190: 643, 1951.
Dean, G., andBarnes, H. D.—Porphyria.Brit. Med. J., Feb. 8, 298, 1958.
Discombe, G. andTreip, C. S.—Cutaneous manifestations of porphyria.Brit. Med. J., Nov. 21, 1134, 1953.
Dunsky, I., Freeman, S. andGibson, S.—Porphyria and porphyrinuria.Amer. J. Dis. Child.,74: 305, 1947.
Ericksen, L.—Scand. J. Clin. Lab. Invest.,5: 155, 1953. Quoted byFalk in Biochem. Soc. Symp. on Chemical Pathology of Animal Pigments.
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.
Falk, J. E., andBenson, A.—Separation of uro-porphyrin esters I and III by paper chromatography.Biochem. J.,55: 101, 1953.
Falk, J. E., andWillis, J. B.—Aust. J. Sci. Res.,4: 579, 1951.
Findlay, G. H. andBarnes H. D.—Congenital porphyria, hydroa acstivale and hypertrichosis in a South African Bantu.Lancet,2: 846, 1950.
Goadby, H. K.—Porphyria.Med. Annu., p. 232.Wright,Bristol, 1955.
Gray, C. H., andNeuberger, A.—Lancet,1: 851, 1952, quoted byLedingham, U.,Med. Annu.,8: 336,Wright,Bristol, 1953.
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.
Guenther, H.—Dtsch. Arch. Klin. Med., 105: 89, 1912, quoted byVannotti.
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.
Kennard, O. andRimington, C.—Identification and classification of some porphyrins on the basis of their X-ray diffraction patterns.Biochem. J.,55: 105, 1953.
Kitagawa, K.—Über Hämatoporphyria congenita “Hans Günther” und ihre experimentalle Utersuchung.,Jap. J. Dermat. Urol.,27: 43, 1927 quoted byStich.
Matsuoka, K.—Über Haematoporphyria congenita.—Jap. J. Dermat. Urol.,28: 38, 1926 quoted byStich.
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.
Nicholas, R. E. M.—Chromatographic methods for the separation and identification of porphyrins.Biochem. J.,48: 309, 1951.
Nicholas, R. E. M., andRimington, C.—Qualitative analysis of the porphyrins by partition chromatography.Scand. J. Clin. Lab. Invest.,1: 12, 1949.
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.
Nicholas, R. E. M. andRimington, C.—Studies on the “Waldenström porphyria of acute porphyria urines.Biochem. J.,55: 109, 1953.
Prunty, F. I. G.—Porphyria. Med. Annu., p. 291.Wright,Bristol, 1952.
Ranking, J. E. andPardington, S. L.—Two cases of haematoporphyrin in the urine.Lancet,2: 607, 1890, quoted byVannotti.
Rimington, C.—Quantitative method for the determination of uroporphyrins in pathological urines.Biochem. J.,37: 443, 1943.
Idem. Rimington, C.—Introduction to Biochem. Soc. Symp. on the Chemical Pathology of Animal Pigments, No. 12, p. 1.Cambridge Univ. Press, 1954.
Idem. —Correspondence,Brit. Med. J., March 15, 640, 1958.
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.
Rimington, C. andSveinsson, S. L.—The spectrophotometric determination of uro-porphyrins.Scand. J. Clin. Lab. Inves.,2: 209, 1950.
Sato, A, andTakahashi, H.—A new form of congenital hematoporphyria.Amer. J. Dis. Child.,32: 325, 1926, quoted byStich.
Schmid, R., Schwartz, S. andSundberg, R. D.—Erythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.Blood,10: 416, 1955.
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.
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.
Stich, V.—Kongenitale und hereditäre Porphyrien.Mod. Probl. Paedial.,3: 139,S. Karger,Basel, 1957.
Taneja, P. N. andSeth, R. K.—Congenital Porphyria.Indian J. Child Hlth.,8: 707, 1956.
Vannotti, A.—Porphyrins. Their biological and chemical importance. Trans. byC. Rimington.Hilger and Watts,London, 1954.
Waldenstroem, J.—Acta med. Scand.,83: 281, 1934, quoted byVannotti.
Idem.Waldenstroem, J.—Acta. med. Scand., Suppl. 82, 1937, quoted byDean and Barnes.
Watson, C. J. andSchwartz, S.—A simple test for urinary porphobilinogen.Proc. Soc. Exp. Biol. Med.,47: 393, 1941.
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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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DOI: https://doi.org/10.1007/BF02903014