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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Veröffentlicht in:	Genes 2021-11, Vol.12 (11), p.1828
Hauptverfasser:	Sudrié-Arnaud, Bénédicte, Legendre, Marine, Snanoudj, Sarah, Pelluard, Fanny, Bekri, Soumeya, Tebani, Abdellah
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amenorrhea Amniotic fluid Anemia Bone marrow Case Report Congenital diseases Disease Edema Erythrocytes Female Fetuses Gallbladder diseases Genomes Genotype & phenotype Heme Humans Hydrops fetalis Hydrops Fetalis - genetics Hydrops Fetalis - pathology Miscarriage Neonates Phenotype Porphyria Porphyria, Erythropoietic - genetics Porphyria, Erythropoietic - pathology Pregnancy Ultrasonic imaging Uroporphyrinogen III Synthetase - genetics
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