Porphyria, Erythropoietic |
|
| Congenital Erythropoietic Porphyria; Gunther Disease; Congenital Erythropoietic Porphyrias; Disease, Gunther; Disease, Gunther's; Erythropoietic Porphyria, Congenital; Erythropoietic Porphyrias; Erythropoietic Porphyrias, Congenital; Gunthers Disease | |
| An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. | |