Therapeutic Efficacy of Oral Charcoal in Congenital Erythropoietic Porphyria

GüNTHER'S disease, or congenital erythropoietic porphyria, is a rare autosomal recessive disorder of heme biosynthesis characteristically associated with diminished uroporphyrinogen III cosynthetase activity. 1 , 2 Disfiguring photomutilation starts in childhood. Avoidance of sunlight has been the only sure way to prevent or retard photosensitivity. The treatments that have been tried have had limited success. A partial benefit after splenectomy has been reported, 3 but there is little evidence of specific, long-term improvement. 4 5 6 Haining and colleagues first reported suppression of bone marrow release of porphyrins by induced polycythemia, 7 supporting the notion that disease activity can be modulated by diminishing porphyrin overproduction at the source . . .