Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria.

摘要

Congenital erythropoietic porphyria (CEP; MIM 263700) is a rare autosomal recessive disease caused by mutations in uroporphyrinogen III synthase (UROS) or, rarely, in GATA1 genes,leading to UROS deficiency (Fritsch et al., 1997; cle Verneuil ef al., 2003; Phillips ef al., 2007). The resulting overproduction of type I porphyrin isomers by erythroid cells causes severe photosensitivity and hemolytic anemia.