Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

Congenital erythropoietic porphyria (CEP), which is the result of a deficie ncy of uroporphyrinogen (URO) III synthase activity, is the most disfigurin g porphyria in humans. Various methods of treatment have been used to treat CEP with varying success, including erythrocyte transfusion, hydroxyurea, and splenectomy The only treatment that corrects the enzymatic defect resul ting in a cure is bone marrow/stem cell transplantation, which has been rep orted previously in only 5 patients worldwide. We describe the first patien t with CEP who underwent successful bone marrow transplantation performed i n the United States and review the therapeutic options in the management of this challenging type of porphyria.