Next Article in Journal
CircNFIC Balances Inflammation and Apoptosis by Sponging miR-30e-3p and Regulating DENND1B Expression
Next Article in Special Issue
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges
Previous Article in Journal
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
Previous Article in Special Issue
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients
 
 
Case Report

An Atypical Case of Congenital Erythropoietic Porphyria

1
Department of Metabolic Biochemistry, Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, 76000 Rouen, France
2
Service de Génétique Médicale, CHU de Bordeaux, 33400 Bordeaux, France
3
Service d’Anatomopathologie, CHU de Bordeaux, 33400 Bordeaux, France
*
Author to whom correspondence should be addressed.
Academic Editors: Ewa Piotrowska and Magdalena Podlacha
Genes 2021, 12(11), 1828; https://doi.org/10.3390/genes12111828
Received: 14 October 2021 / Revised: 16 November 2021 / Accepted: 18 November 2021 / Published: 19 November 2021
(This article belongs to the Special Issue Genetics and Genomics of Inherited Metabolic Diseases)
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. View Full-Text
Keywords: UROS; congenital erythropoietic porphyria; Next-Generation Sequencing; hydrops fetalis; bone abnormalities UROS; congenital erythropoietic porphyria; Next-Generation Sequencing; hydrops fetalis; bone abnormalities
Show Figures

Figure 1

MDPI and ACS Style

Sudrié-Arnaud, B.; Legendre, M.; Snanoudj, S.; Pelluard, F.; Bekri, S.; Tebani, A. An Atypical Case of Congenital Erythropoietic Porphyria. Genes 2021, 12, 1828. https://doi.org/10.3390/genes12111828

AMA Style

Sudrié-Arnaud B, Legendre M, Snanoudj S, Pelluard F, Bekri S, Tebani A. An Atypical Case of Congenital Erythropoietic Porphyria. Genes. 2021; 12(11):1828. https://doi.org/10.3390/genes12111828

Chicago/Turabian Style

Sudrié-Arnaud, Bénédicte, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, and Abdellah Tebani. 2021. "An Atypical Case of Congenital Erythropoietic Porphyria" Genes 12, no. 11: 1828. https://doi.org/10.3390/genes12111828

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop