Congenital erythropoietic porphyria

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

congenital photosensitive porphyria, erythropoietic uroporphyria, Gunther's disease

Broader Terms

congenital blood disorder, genetic disorder, porphyria

Related Terms

autosomal recessive trait, nonvisual photosensitivity

Scope Note

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

Facts (generated by robot; please edit if you find it inaccurate)

• com 1000 Congenital erythropoietic porphyria is a very rare autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthease, leading to porphyrin acumulation in many tissues, with marked skin photosensitivity.
• DiscussionCongenital erythropoietic porphyria is a rare photosensitive genodermatosis affecting childhood.
• Congenital erythropoietic porphyria is now curable by stem cell transfusion, paving hope for the future, but there is not yet a cure available for EPP.
• c INHERITANCE 49 Congenital erythropoietic porphyria is an autosomal recessive condition.
• Congenital erythropoietic porphyria is a rare condition resulting from an inborn error in prophyrin metabolism.

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