Autosomal erythropoietic protoporphyria
What is Autosomal erythropoietic protoporphyria?
A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations.
Other condition names
- EPP
Inheritance type
Autosomal dominant, Autosomal recessive
Prevalence
- Europe: 1-9 in 1,000 000
Age of Onset
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.