Congenital erythropoietic porphyria is a rare error of heme metabolism. Derangement of heme metabolism leads to disfiguration, phototoxicity, and the precipitation of ...

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO ...

Erythropoietic protoporphyria is a genetic disease in which ferrochelatase is defective. Protoporphyrin accumulates in erythrocytes, leaks into the plasma and results in severe skin photosensitivity.