Autosomal erythropoietic protoporphyria
ORPHA:79278· ICD-10 E80.0
Definition
A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal