Severe Case of Rare Porphyria, CEP, Diagnosed in Newborn

Severe Case of Rare Porphyria, CEP, Diagnosed in Newborn

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Severe Case of Rare Porphyria, CEP, Diagnosed in Newborn

A rare and severe form of porphyria — congenital erythropoietic porphyria (CEP) — was diagnosed in an infant girl immediately after birth. The case report, “Perinatal onset of severe congenital erythropoietic porphyria,” was published in the journal Archives of Disease in Childhood: Fetal & Neonatal. Porphyrias are a group of inherited disorders characterized by disruptions in the production of heme, an essential molecule that helps transport oxygen throughout the body. CEP, also known as Günther…

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