ORPHA:79473
Variegate porphyria
Also called Porphyria variegata, Protoporphyrinogen oxidase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Adolescent, Adult
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:79473 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abdominal pain
- Abnormal circulating porphyrin concentration
- Porphyrinuria
- Increased urinary porphobilinogen
- Abnormal enzyme/coenzyme activity
- Abnormality of the nervous system