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Article

Molecular genetics of congenital erythropoietic porphyria.

Seminars in liver disease - 1 Jan 1998

Desnick R J, Glass I A, Xu W, Solis C, Astrin K H

Abstract excerpt

Congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis, results from the markedly deficient activity of the cytosolic enzyme, uroporphyrinogen III synthase (URO-synthase). The accumulation of the nonphysiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I, leads to the clinical manifestations of CEP. Disease severity in unrelated patients is...

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PMID: 9516681
DOI: 10.1055/s-2007-1007143

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