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.
Also Known As:
Congenital Erythropoietic Porphyria; Gunther's Disease; Porphyria, Congenital Erythropoietic; Gunther Disease; Erythropoietic Porphyria, Congenital; Porphyrias, Erythropoietic; Porphyria, Erythropoietic; UROS Deficiency; Congenital Erythropoietic Porphyrias; Erythropoietic Porphyrias; Erythropoietic Porphyrias, Congenital; Gunthers Disease; Porphyrias, Congenital Erythropoietic; Deficiency of Uroporphyrinogen III Synthase; Porphyria, Erythropoietic, Congenital; Uroporphyrinogen III Synthase, Deficiency of