ORPHA:95159
Hepatoerythropoietic porphyria
Also called HEP
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:95159 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormal enzyme/coenzyme activity
- Severe photosensitivity
- Abnormal blistering of the skin
- Fragile skin
- Red urine
- Abnormal circulating porphyrin concentration