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This enzyme defect results in overproduction of the non\u2010physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of <jats:styled-content style=\"fixed-case\">CEP<\/jats:styled-content> include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of <jats:styled-content style=\"fixed-case\">ALAS<\/jats:styled-content>2, the first and rate\u2010limiting of the haem synthesis enzymes in erythroid cells, has also been reported. <jats:styled-content style=\"fixed-case\">CEP<\/jats:styled-content> is inherited as autosomal recessive or X\u2010linked trait due to mutations in <jats:italic><jats:styled-content style=\"fixed-case\">UROS<\/jats:styled-content><\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>1<\/jats:italic> genes; however an involvement of other causative or modifier genes cannot be ruled out.<\/jats:p>","DOI":"10.1111\/bjh.13978","type":"journal-article","created":{"date-parts":[[2016,3,12]],"date-time":"2016-03-12T19:44:20Z","timestamp":1457811860000},"page":"365-379","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Advances in understanding the pathogenesis of congenital erythropoietic porphyria"],"prefix":"10.1111","volume":"173","author":[{"given":"Elena","family":"Di Pierro","sequence":"first","affiliation":[{"name":"U.O. di Medicina Interna Fondazione IRCCS C\u00e0 Granda \u2013 Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Brancaleoni","sequence":"additional","affiliation":[{"name":"U.O. di Medicina Interna Fondazione IRCCS C\u00e0 Granda \u2013 Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Granata","sequence":"additional","affiliation":[{"name":"U.O. di Medicina Interna Fondazione IRCCS C\u00e0 Granda \u2013 Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1139\/o05-045"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6373"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.3370a"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213085"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH03-05-0290"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2012.00340"},{"key":"e_1_2_8_8_1","first-page":"218","article-title":"Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria","volume":"55","author":"Baran M.","year":"2013","journal-title":"The Turkish Journal of Pediatrics"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.35737"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1039\/p19760000273"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1039\/c39780000185"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu298"},{"key":"e_1_2_8_13_1","first-page":"275","article-title":"The disruption of mouse uroporphyrinogen III synthase (uros) gene is fully lethal","volume":"2","author":"Bensidhoum M.","year":"1998","journal-title":"Transgenics"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.12.1575"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1001\/archderm.1974.01630090061013","article-title":"Congenital erythropoietic porphyria. 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