congenital erythropoietic porphyria
- congenital erythropoietic porphyria
- (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2-q26.3), which encodes uroporphyrinogen-III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow erythroblasts; it is characterized by cutaneous photosensitivity leading to mutilating skin lesions, by hemolytic anemia and splenomegaly, and by greatly increased urinary excretion of uroporphyrin I and coproporphyrin I. Erythrodontia and hypertrichosis are invariably present. Called also congenital photosensitive p., GÑŒnther disease, and erythropoietic uroporphyria.
Medical dictionary.
2011.
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Erythropoietic porphyria — can refer to: * X linked sideroblastic anemia (XLSA) * congenital erythropoietic porphyria (CEP) * erythropoietic protoporphyria (EPP)ee also* porphyria * hepatic porphyriaExternal links* … Wikipedia
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GÑŒnther disease — congenital erythropoietic porphyria … Medical dictionary
