Erythropoietic porphyria

A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.

Disease Alternative Name

cep
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Top Erythropoietic porphyria Doctors on Curofy

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