An Atypical Case of Congenital Erythropoietic Porphyria
| Autor: | Marine Legendre, Bénédicte Sudrié-Arnaud, Fanny Pelluard, Sarah Snanoudj, Abdellah Tebani, Soumeya Bekri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Next-Generation Sequencing
medicine.medical_specialty Uroporphyrinogen III synthase Congenital erythropoietic porphyria Case Report congenital erythropoietic porphyria QH426-470 Gastroenterology Hydroxymethylbilane chemistry.chemical_compound hydrops fetalis Internal medicine Hydrops fetalis Genetics Medicine Uroporphyrinogen I Heme Genetics (clinical) biology business.industry bone abnormalities Heme biosynthesis medicine.disease Intravascular hemolysis chemistry UROS biology.protein business |
| Zdroj: | Genes, Vol 12, Iss 1828, p 1828 (2021) Genes |
| ISSN: | 2073-4425 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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