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.
Inga svenska synonymer finns.
Erythropoietic Porphyrias — Porphyrias, Erythropoietic — Congenital Erythropoietic Porphyria — Congenital Erythropoietic Porphyrias — Erythropoietic Porphyria, Congenital — Erythropoietic Porphyrias, Congenital — Porphyrias, Congenital Erythropoietic — Erythropoietic Porphyria — Gunther Disease — Gunther's Disease — Gunthers Disease — Porphyria, Congenital Erythropoietic — Porphyria, Erythropoietic, Congenital — Deficiency of Uroporphyrinogen III Synthase — Uroporphyrinogen III Synthase, Deficiency of — UROS Deficiency