Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1984 May;36(3):613–622.

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

H de Verneuil, C Beaumont, J C Deybach, Y Nordmann, Z Sfar, R Kastally
PMCID: PMC1684444  PMID: 6375356

Abstract

Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). In HEP patients, enzyme activities were 5% of normal, and familial studies clearly confirmed that patients with HEP are cases of homozygous PCT. Immunoreactive uroporphyrinogen decarboxylase was measured by developing a direct and noncompetitive enzyme immunoassay (EIA). For the 12 familial PCT patients, we found an immunoreactive protein decreased (51%) to the same extent as the catalytic activity (48%) [cross-reactive immunological material ( CRIM ) negative]. The children from the HEP family were also CRIM negative, contrasting with another HEP family previously described as CRIM positive; our data support the hypothesis of a heterogeneity in familial uroporphyrinogen decarboxylase deficiency.

Full text

PDF
613

Selected References

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

  1. Aguadé J. P., Castells A., Indacochea A., Rodés J. A case of biochemically unclassifiable hepatic porphyria. Br J Dermatol. 1969 Apr;81(4):270–275. doi: 10.1111/j.1365-2133.1969.tb13979.x. [DOI] [PubMed] [Google Scholar]
  2. Anderson P. M., Reddy R. M., Anderson K. E., Desnick R. J. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest. 1981 Jul;68(1):1–12. doi: 10.1172/JCI110223. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Avrameas S., Ternynck T. Peroxidase labelled antibody and Fab conjugates with enhanced intracellular penetration. Immunochemistry. 1971 Dec;8(12):1175–1179. doi: 10.1016/0019-2791(71)90395-8. [DOI] [PubMed] [Google Scholar]
  4. Cosmetic talc powder. Lancet. 1977 Jun 25;1(8026):1348–1349. [PubMed] [Google Scholar]
  5. Czarnecki D. B. Hepatoerythropoietic porphyria. Arch Dermatol. 1980 Mar;116(3):307–311. [PubMed] [Google Scholar]
  6. Day R. S., Strauss P. C. Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria? Arch Dermatol. 1982 Sep;118(9):663–667. [PubMed] [Google Scholar]
  7. Dowdle E., Goldswain P., Spong N., Eales L. The pattern of porphyrin isomer accumulation and excretion in symptomatic porphyria. Clin Sci. 1970 Aug;39(2):147–158. doi: 10.1042/cs0390147. [DOI] [PubMed] [Google Scholar]
  8. Elder G. H., Lee G. B., Tovey J. A. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. N Engl J Med. 1978 Aug 10;299(6):274–278. doi: 10.1056/NEJM197808102990603. [DOI] [PubMed] [Google Scholar]
  9. Elder G. H., Sheppard D. M., De Salamanca R. E., Olmos A. Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase. Clin Sci (Lond) 1980 Jun;58(6):477–484. doi: 10.1042/cs0580477. [DOI] [PubMed] [Google Scholar]
  10. Elder G. H., Sheppard D. M., Tovey J. A., Urquhart A. J. Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda. Lancet. 1983 Jun 11;1(8337):1301–1304. doi: 10.1016/s0140-6736(83)92414-5. [DOI] [PubMed] [Google Scholar]
  11. Elder G. H., Smith S. G., Herrero C., Lecha M., Mascaro J. M., Muniesa A. M., Czarnecki D. B., Brenan J., Poulos V., DE Salamanca R. E. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Lancet. 1981 Apr 25;1(8226):916–919. doi: 10.1016/s0140-6736(81)91615-9. [DOI] [PubMed] [Google Scholar]
  12. Eriksen L., Eriksen N. Porphyrin distribution and porphyrin excretion in human congenital erythropoietic porphyria. Scand J Clin Lab Invest. 1974 Jun;33(4):323–332. [PubMed] [Google Scholar]
  13. Felsher B. F., Carpio N. M., Engleking D. W., Nunn A. T. Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda. N Engl J Med. 1982 Apr 1;306(13):766–769. doi: 10.1056/NEJM198204013061302. [DOI] [PubMed] [Google Scholar]
  14. Felsher B. F., Norris M. E., Shih J. C. Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. N Engl J Med. 1978 Nov 16;299(20):1095–1098. doi: 10.1056/NEJM197811162992002. [DOI] [PubMed] [Google Scholar]
  15. Kushner J. P., Barbuto A. J., Lee G. R. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J Clin Invest. 1976 Nov;58(5):1089–1097. doi: 10.1172/JCI108560. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Kushner J. P., Pimstone N. R., Kjeldsberg C. R., Pryor M. A., Huntley A. Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis. Blood. 1982 Apr;59(4):725–737. [PubMed] [Google Scholar]
  17. MAUZERALL D., GRANICK S. The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine. J Biol Chem. 1956 Mar;219(1):435–446. [PubMed] [Google Scholar]
  18. Masters B. S., Baron J., Taylor W. E., Isaacson E. L., LoSpalluto J. Immunochemical studies on electron transport chains involving cytochrome P-450. I. Effects of antibodies to pig liver microsomal reduced triphosphopyridine nucleotide-cytochrome c reductase and the non-heme iron protein from bovine adrenocortical mitochondria. J Biol Chem. 1971 Jul 10;246(13):4143–4150. [PubMed] [Google Scholar]
  19. Nordmann Y., Grandchamp B., de Verneuil H., Phung L., Cartigny B., Fontaine G. Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest. 1983 Sep;72(3):1139–1149. doi: 10.1172/JCI111039. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. de Verneuil H., Aitken G., Nordmann Y. Familial and sporadic porphyria cutanea: two different diseases. Hum Genet. 1978 Oct 31;44(2):145–151. doi: 10.1007/BF00295407. [DOI] [PubMed] [Google Scholar]
  21. de Verneuil H., Grandchamp B., Nordmann Y. Some kinetic properties of human red cell uroporphyrinogen decarboxylase. Biochim Biophys Acta. 1980 Jan 11;611(1):174–186. doi: 10.1016/0005-2744(80)90053-4. [DOI] [PubMed] [Google Scholar]
  22. de Verneuil H., Sassa S., Kappas A. Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III. J Biol Chem. 1983 Feb 25;258(4):2454–2460. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES