Autosomal erythropoietic protoporphyria

What is Autosomal erythropoietic protoporphyria?

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

Other condition names

  • EPP

Inheritance type

Autosomal dominant, Autosomal recessive

Prevalence

  • Europe: 1-9 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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