An Atypical Case of Congenital Erythropoietic Porphyria
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 convert...
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MDPI AG
2021-11-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/11/1828 |
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| author | Bénédicte Sudrié-Arnaud Marine Legendre Sarah Snanoudj Fanny Pelluard Soumeya Bekri Abdellah Tebani |
| author_facet | Bénédicte Sudrié-Arnaud Marine Legendre Sarah Snanoudj Fanny Pelluard Soumeya Bekri Abdellah Tebani |
| author_sort | Bénédicte Sudrié-Arnaud |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T05:28:45Z |
| format | Article |
| id | doaj.art-a4d4b912c8f94bc299563a6021388e7b |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T05:28:45Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-a4d4b912c8f94bc299563a6021388e7b2023-11-22T23:29:23ZengMDPI AGGenes2073-44252021-11-011211182810.3390/genes12111828An Atypical Case of Congenital Erythropoietic PorphyriaBénédicte Sudrié-Arnaud0Marine Legendre1Sarah Snanoudj2Fanny Pelluard3Soumeya Bekri4Abdellah Tebani5Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, FranceService de Génétique Médicale, CHU de Bordeaux, 33400 Bordeaux, FranceDepartment of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, FranceService d’Anatomopathologie, CHU de Bordeaux, 33400 Bordeaux, FranceDepartment of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, FranceDepartment of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, FranceCongenital 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.https://www.mdpi.com/2073-4425/12/11/1828UROScongenital erythropoietic porphyriaNext-Generation Sequencinghydrops fetalisbone abnormalities |
| spellingShingle | Bénédicte Sudrié-Arnaud Marine Legendre Sarah Snanoudj Fanny Pelluard Soumeya Bekri Abdellah Tebani An Atypical Case of Congenital Erythropoietic Porphyria Genes UROS congenital erythropoietic porphyria Next-Generation Sequencing hydrops fetalis bone abnormalities |
| title | An Atypical Case of Congenital Erythropoietic Porphyria |
| title_full | An Atypical Case of Congenital Erythropoietic Porphyria |
| title_fullStr | An Atypical Case of Congenital Erythropoietic Porphyria |
| title_full_unstemmed | An Atypical Case of Congenital Erythropoietic Porphyria |
| title_short | An Atypical Case of Congenital Erythropoietic Porphyria |
| title_sort | atypical case of congenital erythropoietic porphyria |
| topic | UROS congenital erythropoietic porphyria Next-Generation Sequencing hydrops fetalis bone abnormalities |
| url | https://www.mdpi.com/2073-4425/12/11/1828 |
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