Erythropoietic protoporphyria

  title={Erythropoietic protoporphyria},
  author={T. M. Cox},
  journal={Journal of Inherited Metabolic Disease},
Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple… CONTINUE READING