{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:27Z","timestamp":1790679207158,"version":"4.1.0"},"reference-count":16,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T00:00:00Z","timestamp":1637280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital erythropoietic porphyria (CEP, OMIM #606938) is a severe autosomal recessive inborn error of heme biosynthesis. This rare panethnic disease is due to a deficiency of uroporphyrinogen III synthase (or cosynthase). Subsequently, its substrate, the hydroxymethylbilane is subsequently converted into uroporphyrinogen I in a non-enzymatic manner. Of note, uroporphyrinogen I cannot be metabolized into heme and its accumulation in red blood cells results in intramedullary and intravascular hemolysis. The related clinical symptoms occur most frequently during antenatal or neonatal periods but may also appear in late adulthood. The main antenatal clinical presentation is a non-immune hydrops fetalis. We report here two cases of antenatal CEP deficiency and a review of the reported cases in the literature.<\/jats:p>","DOI":"10.3390\/genes12111828","type":"journal-article","created":{"date-parts":[[2021,11,21]],"date-time":"2021-11-21T20:58:21Z","timestamp":1637528301000},"page":"1828","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An Atypical Case of Congenital Erythropoietic Porphyria"],"prefix":"10.3390","volume":"12","author":[{"given":"B\u00e9n\u00e9dicte","family":"Sudri\u00e9-Arnaud","sequence":"first","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Legendre","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Bordeaux, 33400 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8382-056X","authenticated-orcid":false,"given":"Sarah","family":"Snanoudj","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1874-2742","authenticated-orcid":false,"given":"Fanny","family":"Pelluard","sequence":"additional","affiliation":[{"name":"Service d\u2019Anatomopathologie, CHU de Bordeaux, 33400 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6184-7270","authenticated-orcid":false,"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/bjh.13978","article-title":"Advances in understanding the pathogenesis of congenital erythropoietic porphyria","volume":"173","author":"Brancaleoni","year":"2016","journal-title":"Br. J. Haematol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1046\/j.1365-2141.2002.03557.x","article-title":"Congenital erythropoietic porphyria: Advances in pathogenesis and treatment","volume":"117","author":"Dsnick","year":"2002","journal-title":"Br. J. Haematol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ymgme.2018.12.008","article-title":"Congenital erythropoietic porphyria: Recent advances","volume":"Volume 128","author":"Erwin","year":"2019","journal-title":"Molecular Genetics and Metabolism"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1172\/JCI10642","article-title":"Uroporphyrinogen iii synthase erythroid promoter mutations in adjacent gata1 and cp2 elements cause congenital erythropoietic porphyria","volume":"107","author":"Solis","year":"2001","journal-title":"J. Clin. Investig."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Fernandes, J., Saudubray, J.M., and van den Berghe, G. (2013). Inborn Metabolic Diseases: Diagnosis and Treatment, Springer.","DOI":"10.1007\/978-3-642-15720-2"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/pd.491","article-title":"Congenital erythropoietic porphyria (g\u00fcnther\u2019s disease): Two cases with very early prenatal manifestation and cystic hygroma","volume":"23","author":"Pannier","year":"2003","journal-title":"Prenat. Diagn."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/s100240010143","article-title":"Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses","volume":"4","author":"Dommergues","year":"2001","journal-title":"Pediatric Dev. Pathol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1159\/000020933","article-title":"A rare cause of fetal ascites: A case report of gunther\u2019s disease","volume":"14","author":"Lienhardt","year":"1999","journal-title":"Fetal Diagn. Ther."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/pd.852","article-title":"The prenatal presentation of congenital erythropoietic porphyria: Report of two siblings with elevated maternal serum \u03b1-fetoprotein","volume":"24","author":"Lazebnik","year":"2004","journal-title":"Prenat. Diagn."},{"key":"ref_10","first-page":"121","article-title":"Biochemical diagnosis of a fatal case of g\u00fcnther\u2019s disease in a newborn with hydrops foetalis","volume":"31","author":"Verstraeten","year":"1993","journal-title":"Eur. J. Clin. Chem. Clin. Biochem."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cca.2018.02.023","article-title":"Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation","volume":"481","author":"Marguet","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1002\/cam4.492","article-title":"Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care","volume":"4","author":"Muller","year":"2015","journal-title":"Cancer Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1093\/nar\/gku345","article-title":"Canoes: Detecting rare copy number variants from whole exome sequencing data","volume":"42","author":"Backenroth","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_15","first-page":"53","article-title":"Congenital erythropoietic porphyria: Mutation update and correlations between genotype and phenotype","volume":"55","author":"Ged","year":"2009","journal-title":"Cell. Mol. Biol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1146\/annurev-med-122313-085916","article-title":"Lysosomal storage diseases: From pathophysiology to therapy","volume":"66","author":"Parenti","year":"2015","journal-title":"Annu. Rev. 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