Erythropoietic Porphyrias, Congenital

Medical Condition:
Erythropoietic Porphyrias, Congenital

Autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.