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An Atypical Case of Congenital Erythropoietic Porphyria.

ABSTRACT: 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.

SUBMITTER: Sudrie-Arnaud B

PROVIDER: S-EPMC8620571 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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An Atypical Case of Congenital Erythropoietic Porphyria.

Sudrié-Arnaud Bénédicte B Legendre Marine M Snanoudj Sarah S Pelluard Fanny F Bekri Soumeya S Tebani Abdellah A

Genes 20211119 11

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 he ...[more]

PMID: 34828434

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