Article
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Molecular medicine (Cambridge, Mass.) - 30 Apr 2013
Balwani Manisha, Doheny Dana, Bishop David F, Nazarenko Irina, Yasuda Makiko, Dailey Harry A, Anderson Karl E, Bissell D Montgomery, Bloomer Joseph, Bonkovsky Herbert L, Phillips John D, Liu Lawrence, Desnick Robert J
Abstract excerpt
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function mutations in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene, respectively. The EPP phenotype is characterized by acute, painful,...
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