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congenital erythropoietic porphyria


Definition: enhanced porphyrin formation by erythroid cells in bone marrow, leading to severe porphyrinuria, often with hemolytic anemia and persistent cutaneous photosensitivity; caused by a deficiency of uroporphyrinogen III cosynthetase; autosomal recessive inheritance, caused by mutation in the uroporphyrinogen III synthase gene (UROS) on chromosome 10q; there is an overproduction of type I porphyrin isomers.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.