{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:12:41Z","timestamp":1759691561857,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,10]]},"abstract":"<jats:p>The concentration of immunoreactive uroporphyrinogen decarboxylase has been measured in erythrocytes from 17 patients with porphyria cutanea tarda (PCT) from 10 families, from 74 of their relatives, and from 47 control subjects. The 10 families were divided into two groups according to their erythrocyte enzyme concentrations. Group A contained four families in which at least two subjects had overt PCT. All members of these families, including seven patients with overt PCT, had normal erythrocyte uroporphyrinogen decarboxylase concentrations and activities. Apart from their family history, patients in group A were clinically and biochemically indistinguishable from cases of type I (sporadic) PCT. Group B contained six families with the only previously described form of familial PCT (type II PCT) in which decreased erythrocyte uroporphyrinogen decarboxylase segregates as an autosomal dominant trait. These findings show that familial PCT is heterogeneous and suggest that inheritance contributes to the pathogenesis of at least some cases of type I PCT.<\/jats:p>","DOI":"10.1136\/jmg.25.10.669","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"669-676","source":"Crossref","is-referenced-by-count":34,"title":["Heterogeneity of familial porphyria cutanea tarda."],"prefix":"10.1136","volume":"25","author":[{"given":"A G","family":"Roberts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G H","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R G","family":"Newcombe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Enriquez de Salamanca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Munoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,10,1]]},"reference":[{"key":"ref_1","first-page":"189","article-title":"Photosensitivity diseases: principles of diagnosis and treatment","author":"l Harber LC, Bickers DR","year":"1981","unstructured":"l Harber LC, Bickers DR. Photosensitivity diseases: principles of diagnosis and treatment. Philadelphia: Saunders, 1981:189-223."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1136\/bmj.2.5352.272","article-title":"Different patterns of human porphyria","volume":"ii:","author":"Waldenstrom, J.; Haeger-Aronsen, B.","year":"1963","unstructured":"Waldenstrom J, Haeger-Aronsen B. Different patterns of human porphyria. Br Med J 1963;ii:272-6.","journal-title":"Br Med J"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/B978-1-4831-6757-2.50006-3","article-title":"The porphyrias: a genetic problem","volume-title":"Progress in medical genetics. Vol 5","author":"Waldenstrom, J.; Haeger-Aronsen, B.","year":"1967","unstructured":"Waldenstrom J, Haeger-Aronsen B. The porphyrias: a genetic problem. In: Steinberg AG, Beams AG, eds. Progress in medical genetics. Vol 5. New York: Grune and Stratton, 1967:58-101."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1172\/JCI108560","article-title":"An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity","volume":"58","author":"Kushner, J.P.; Barbuto, A.J.; Lee, G.R.","year":"1976","unstructured":"Kushner JP, Barbuto AJ, Lee GR. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J Clin Invest 1976;58:1089-97.","journal-title":"J Clin Invest"},{"key":"ref_5","first-page":"229","article-title":"Immunoreactive uroporphyrinogen decarboxylase in the liver in prophyria cutanea tarda","volume":"i:","author":"Elder, G.H.; Urquhart, A.J.; De Salamanca, R.; Munoz, J.J.; Bonkovsky, H.L.","year":"1985","unstructured":"Elder GH, Urquhart AJ, De Salamanca R, Munoz JJ, Bonkovsky HL. Immunoreactive uroporphyrinogen decarboxylase in the liver in prophyria cutanea tarda. Lancet 1985;i:229-32.","journal-title":"Lancet"},{"key":"ref_6","first-page":"\"3","article-title":"Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases","volume":"19","author":"Sweeney, G.D.","year":"1986","unstructured":"Sweeney GD. Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases. Clin Biochem 1986;19:3-15. de Verneuil H, Aitken G, Nordmann Y. Familial and sporadic porphyria cutanea: two different diseases. Hum Genet 1978;4: 145-51.","journal-title":"Clin Biochem; Familial and sporadic porphyria cutanea: two different diseases"},{"key":"ref_7","first-page":"\"358","article-title":"Porphyria cutanea tarda in three generations of a single family","volume":"298","author":"Benedetto, A.V.; Kushner, J.P.; Taylor, J.S.","year":"1978","unstructured":"Benedetto AV, Kushner JP, Taylor JS. Porphyria cutanea tarda in three generations of a single family. N Engl J Med 1978;298: 358-62. \u00a7 de Verneuil H, Beaumont C, Deybach JC, Nordmann Y, Sfar Z, Kastaily R. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. Am J Hum Genet 1984; 36:613-22.","journal-title":"N Engl J Med; Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1007\/BF01477732","article-title":"Hereditary and nonhereditary form of chronic hepatic porphyria: different behaviour of uroporphyrinogen decarboxylase in liver and erythrocytes","volume":"58","author":"Doss, M.; von Tiepermann, R.; Look, D.","year":"1980","unstructured":"Doss M, von Tiepermann R, Look D, et al. Hereditary and nonhereditary form of chronic hepatic porphyria: different behaviour of uroporphyrinogen decarboxylase in liver and erythrocytes. Klin Wochenschr 1980;58:1347-56.","journal-title":"Klin Wochenschr"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1042\/cs0580477","article-title":"Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase","volume":"58","author":"Elder, G.H.; Sheppard, D.M.; Enriquez de Salamanca, R.; Olmos, A.","year":"1980","unstructured":"Elder GH, Sheppard DM, Enriquez de Salamanca R, Olmos A. Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase. Clin Sci 1980;58:477-84.","journal-title":"Clin Sci"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1159\/000250277","article-title":"Porphyria cutanea tarda in three brothers and one sister","volume":"162","author":"A, Garcia Diez; de Salamanca R, Enriquez; J, Fernandez Hererra; A, Olmos; M, Aragues; R, Rico Benavente","year":"1981","unstructured":"Garcia Diez A, Enriquez de Salamanca R, Fernandez Hererra J, Olmos A, Aragues M, Rico Benavente R. Porphyria cutanea tarda in three brothers and one sister. Dermatologica 1981;162: 243-48.","journal-title":"Dermatologica"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000459101","article-title":"Measurement of uroporphyrinogen decarboxylase using porphyrinogens prepared by chemical reduction","volume":"28","author":"Elder, G.H.; Wyvill, P.C.","year":"1982","unstructured":"Elder GH, Wyvill PC. Measurement of uroporphyrinogen decarboxylase using porphyrinogens prepared by chemical reduction. Enzyme 1982;28:186-93.","journal-title":"Enzyme"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0020-711X(82)90083-0","article-title":"Quantitative and qualitative porphyrin excretion in normal subjects","volume":"14","author":"de Salamanca R, Enriquez; ML, Pena; S, Chinarro","year":"1982","unstructured":"Enriquez de Salamanca R, Pena ML, Chinarro S, et al. Quantitative and qualitative porphyrin excretion in normal subjects. Int J Biochem 1982;14:251-4.","journal-title":"Int J Biochem"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1016\/S0016-5085(85)80084-6","article-title":"Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda","volume":"88","author":"Kushner, J.P.; Edwards, C.Q.; Dadone, M.M.; Skolnick, M.H.","year":"1985","unstructured":"Kushner JP, Edwards CQ, Dadone MM, Skolnick MH. Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda. Gastroenterology 1985;88:1232-8.","journal-title":"Gastroenterology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"162","DOI":"10.7326\/0003-4819-95-2-162","article-title":"Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria","volume":"95","author":"Mustajoki, P.","year":"1981","unstructured":"Mustajoki P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med 1981;95:162-6.","journal-title":"Ann Intern Med"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1432-1033.1987.tb10548.x","article-title":"Tissue-specific expression of porphobilogen deaminase: two isoenzymes from a single gene","volume":"162","year":"1987","unstructured":"Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter 0, Nordmann Y. Tissue-specific expression of porphobilogen deaminase: two isoenzymes from a single gene. Eur J Biochem 1987;162:105-10.","journal-title":"Eur J Biochem"},{"key":"ref_16","first-page":"25","article-title":"Molecular cloning and tissue-specific expression analysis of human porphobilinogen deaminase and uroporphyrinogen decarboxylase","author":"Romeo, P.H.; Raich, N.; Dubart, A.; Beaupain, D.; Mattei, M.G.; Goossens, M.","year":"1986","unstructured":"Romeo PH, Raich N, Dubart A, Beaupain D, Mattei MG, Goossens M. Molecular cloning and tissue-specific expression analysis of human porphobilinogen deaminase and uroporphyrinogen decarboxylase. In: Nordmann Y, ed. Porphyrins and porphyrias. Montrouge: Colloque INSERM\/John Libbey Eurotext Ltd, 1986:25-34."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1126\/science.3775362","article-title":"Uroporphyrinogen decarboxylase structural mutant (Gly'--Glu) in a case of porphyria","volume":"234","author":"de Verneuil H; B, Grandchamp; C, Beaumont; C, Picat; Y, Nordmann","year":"1986","unstructured":"de Verneuil H, Grandchamp B, Beaumont C, Picat C, Nordmann Y. Uroporphyrinogen decarboxylase structural mutant (Gly'--Glu) in a case of porphyria. Science 1986;234:732-4.","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"9825","DOI":"10.1016\/S0021-9258(18)67589-1","article-title":"Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA","volume":"261","author":"Romeo, P.H.; Raich, N.; Dibart, A.","year":"1986","unstructured":"Romeo PH, Raich N, Dibart A, et al. Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. J Biol Chem 1986;261:9825-31.","journal-title":"J Biol Chem"},{"key":"ref_19","first-page":"661","article-title":"Human uroporphyrinogen decarboxylase. Do tissue-specific isoenzymes exist?","volume":"12","author":"Elder, G.H.; Urquhart, A.J.","year":"1984","unstructured":"Elder GH, Urquhart AJ. Human uroporphyrinogen decarboxylase. Do tissue-specific isoenzymes exist? Biochem Soc Trans 1984;12:661-2.","journal-title":"Biochem Soc Trans"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1056\/NEJM198204013061309","article-title":"The enzymatic defect in porphyria cutanea tarda","volume":"306","author":"Kushner, J.P.","year":"1982","unstructured":"Kushner JP. The enzymatic defect in porphyria cutanea tarda. N Engl J Med 1982;306:799-800.","journal-title":"N Engl J Med"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.10.669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:52:51Z","timestamp":1759690371000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.10.669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,10]]},"references-count":20,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1988,10,1]]},"published-print":{"date-parts":[[1988,10]]}},"alternative-id":["10.1136\/jmg.25.10.669"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.10.669","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1988,10]]}}}