EP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy

Abstract

Congenital erythropoietic porphyria (CEP, OMIM #263700) is a rare disorder of heme biosynthesis characterized biochemically by elevated excretion of type I porphyrin isomers in urine and feces. The disorder is caused by decreased uroporphyrinogen III synthase (UROS) activity, leading to an overproduction of the dead-end metabolites uro- and coproporphyrinogen I, primarily in the bone marrow, and the subsequent deposition of type I porphyrin isomers in tissues.