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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Autores principales:	Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, Abdellah Tebani
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	UROS congenital erythropoietic porphyria Next-Generation Sequencing hydrops fetalis bone abnormalities Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a4d4b912c8f94bc299563a6021388e7b
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spelling	oai:doaj.org-article:a4d4b912c8f94bc299563a6021388e7b2021-11-25T17:42:28ZAn Atypical Case of Congenital Erythropoietic Porphyria10.3390/genes121118282073-4425https://doaj.org/article/a4d4b912c8f94bc299563a6021388e7b2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1828https://doaj.org/toc/2073-4425Congenital 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.Bénédicte Sudrié-ArnaudMarine LegendreSarah SnanoudjFanny PelluardSoumeya BekriAbdellah TebaniMDPI AGarticleUROScongenital erythropoietic porphyriaNext-Generation Sequencinghydrops fetalisbone abnormalitiesGeneticsQH426-470ENGenes, Vol 12, Iss 1828, p 1828 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	UROS congenital erythropoietic porphyria Next-Generation Sequencing hydrops fetalis bone abnormalities Genetics QH426-470
spellingShingle	UROS congenital erythropoietic porphyria Next-Generation Sequencing hydrops fetalis bone abnormalities Genetics QH426-470 Bénédicte Sudrié-Arnaud Marine Legendre Sarah Snanoudj Fanny Pelluard Soumeya Bekri Abdellah Tebani An Atypical Case of Congenital Erythropoietic Porphyria
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.
format	article
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
title	An Atypical Case of Congenital Erythropoietic Porphyria
title_short	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_sort	atypical case of congenital erythropoietic porphyria
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a4d4b912c8f94bc299563a6021388e7b
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An Atypical Case of Congenital Erythropoietic Porphyria

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