The molecular genetics of erythropoietic protoporphyria.

  title={The molecular genetics of erythropoietic protoporphyria.},
  author={George H. Elder and Laurent Gouya and Sharon D. Whatley and H. S. Puy and Michael N. Badminton and J-C D Deybach},
  journal={Cellular and molecular biology},
  volume={55 2},
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients have ferrochelatase (FECH) deficiency (MIM 177000) while about 2% have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in the ALAS2 gene. Most FECH-deficient patients are compound heterozygotes for a… CONTINUE READING