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 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.
['Sudrié-Arnaud|Bénédicte|B|', 'Legendre|Marine|M|', 'Snanoudj|Sarah|S|0000-0002-8382-056X', 'Pelluard|Fanny|F|0000-0003-1874-2742', 'Bekri|Soumeya|S|0000-0001-6184-7270', 'Tebani|Abdellah|A|0000-0002-8901-2678']
congenital erythropoietic porphyria hydrops fetalis Next-Generation Sequencing UROS bone abnormalities