Porphyria, Erythropoietic

**Definition:** 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.

**Tree numbers:** - C16.320.850.738 - C17.800.827.738 - C18.452.811.250

**Synonyms:** - Congenital Erythropoietic Porphyria - Erythropoietic Porphyria - Gunther Disease - Gunther's Disease - Porphyria, Congenital Erythropoietic - Porphyria, Erythropoietic, Congenital