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. 1971 Jan;50(1):203–207. doi: 10.1172/JCI106474

Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation

Perry Scholnick 1,2, Harvey S Marver 1,2, Rudi Schmid 1,2
PMCID: PMC291908  PMID: 5101296

Abstract

A patient with erythropoietic protoporphyria was studied to determine the sites of excess protoporphyrin formation. The patient's protoporphyrin was pulse labeled by the simultaneous administration of the precursors 2-glycine-14C and 3,5-δ-aminolevulinic acid-3H; δ-aminolevulinic acid preferentially labels the hepatic pool. Blood and feces were studied at intervals for the next 14 days. Protoporphyrin was extracted from erythrocytes, plasma, and feces, identified by thin-layer chromatography, and quantitated spectrophotometrically, and its specific activity was determined by liquid scintillation spectrometry. Analysis of the kinetic and isotopic data indicated at least two sources of protoporphyrin, one localized in the erythroid cells, a second in the liver. The liver was responsible for the majority of the excess protoporphyrin. This report thus provides evidence of a genetic porphyria exhibiting an abnormality of porphyrin biosynthesis in at least two tissues. We propose that the disease, erythropoietic protoporphyria, be renamed erythrohepatic protoporphyria.

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Selected References

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

  1. Chu T. C., Chu E. J. Rapid thin-layer chromatography of porphyrins and related compounds, and its application to the study of porphyrias. J Chromatogr. 1967 Jun;28(2):475–478. doi: 10.1016/s0021-9673(01)86008-8. [DOI] [PubMed] [Google Scholar]
  2. Dagg J. H., Goldberg A., Lochhead A. Value of erythrocyte protoporphyrin in the diagnosis of latent iron deficiency (sideropenia). Br J Haematol. 1966 May;12(3):326–330. doi: 10.1111/j.1365-2141.1966.tb05638.x. [DOI] [PubMed] [Google Scholar]
  3. GRAY C. H., KULCZYCKA A., NICHOLSON D. C., MAGNUS I. A., RIMINGTON C. ISOTOPE STUDIES ON A CASE OF ERYTHROPOIETIC PROTOPORPHYRIA. Clin Sci. 1964 Feb;26:7–15. [PubMed] [Google Scholar]
  4. 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]
  5. HEILMEYER L. THE ERYTHROPOIETIC PORPHYRIAS. Acta Haematol. 1964 Mar;31:137–149. doi: 10.1159/000209623. [DOI] [PubMed] [Google Scholar]
  6. LABBE R. F., NISHIDA G. A new method of hemin isolation. Biochim Biophys Acta. 1957 Nov;26(2):437–437. doi: 10.1016/0006-3002(57)90033-1. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. MURPHY D., WEST H. F. HYDROCORTISONE METABOLISM. Lancet. 1964 Apr 25;1(7339):912–913. doi: 10.1016/s0140-6736(64)91635-6. [DOI] [PubMed] [Google Scholar]
  9. Marver H. S., Tschudy D. P., Perlroth M. G., Collins A. Delta-aminolevulinic acid synthetase. I. Studies in liver homogenates. J Biol Chem. 1966 Jun 25;241(12):2803–2809. [PubMed] [Google Scholar]
  10. Nakao K., Wada O., Takaku F., Sassa S., Yano Y., Urata G. The origin of the increased protoporphyrin in erythrocytes of mice with experimentally induced porphyria. J Lab Clin Med. 1967 Dec;70(6):923–932. [PubMed] [Google Scholar]
  11. PETERKA E. S., FUSARO R. M., RUNGE W. J., JAFFE M. O., WATSON C. J. ERYTHROPOIETIC PROTOPORPHYRIA. I. CLINICAL AND LABORABORY FEATURES IN SEVEN NEW CASES. JAMA. 1965 Sep 20;193:1036–1042. doi: 10.1001/jama.1965.03090120044011. [DOI] [PubMed] [Google Scholar]
  12. REDEKER A. G., BRONOW R. S., STERLING R. E. ERYTHROPOIETIC PROTOPORPHYRIA. S Afr J Lab Clin Med. 1963 Dec;14:235–238. [PubMed] [Google Scholar]
  13. Redeker A. G., Sterling R. E. The "glucose effect" in erythropoietic protoporphyria. Arch Intern Med. 1968 May;121(5):446–448. [PubMed] [Google Scholar]
  14. Rimington C. Spectral-absorption coefficients of some porphyrins in the Soret-band region. Biochem J. 1960 Jun;75(3):620–623. doi: 10.1042/bj0750620. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Robinson S. H., Tsong M., Brown B. W., Schmid R. The sources of bile pigment in the rat: studies of the "early labeled" fraction. J Clin Invest. 1966 Oct;45(10):1569–1586. doi: 10.1172/JCI105463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. SCHMID R., SCHWARTZ S., WATSON C. J. Porphyrin content of bone marrow and liver in the various forms of porphyria. AMA Arch Intern Med. 1954 Feb;93(2):167–190. doi: 10.1001/archinte.1954.00240260001001. [DOI] [PubMed] [Google Scholar]
  17. Schwartz E., Nathan D. G. New methods of counting of C-14-labeled hemoglobin and hemin. J Lab Clin Med. 1967 Nov;70(5):841–848. [PubMed] [Google Scholar]
  18. TSCHUDY D. P., PERLROTH M. G., MARVER H. S., COLLINS A., HUNTER G., Jr, RECHCIGL M., Jr ACUTE INTERMITTENT PORPHYRIA: THE FIRST "OVERPRODUCTION DISEASE" LOCALIZED TO A SPECIFIC ENZYME. Proc Natl Acad Sci U S A. 1965 Apr;53:841–847. doi: 10.1073/pnas.53.4.841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. WATSON C. J. The erythrocyte coproporphyrin; variation in respect to erythrocyte protoporphyrin and reticulocytes in certain of the anemias. AMA Arch Intern Med. 1950 Dec;86(6):797–809. doi: 10.1001/archinte.1950.00230180002001. [DOI] [PubMed] [Google Scholar]
  20. WATSON J. R., DECKER E., LICHTMAN H. C. Hematologic studies of children with lead poisoning. Pediatrics. 1958 Jan;21(1):40–46. [PubMed] [Google Scholar]

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