What causes erythropoietic Protoporphyria?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.
How do you test for erythropoietic Protoporphyria?
EPP is usually diagnosed during infancy or early childhood, due to characteristic skin symptoms. The diagnosis may be confirmed by testing the red blood cells (erythrocytes) for increased levels of protoporphyrin.
Is there a cure for erythropoietic Protoporphyria?
What is the treatment for erythropoietic protoporphyria? There is no cure for EPP. Lifelong photosensitivity is the main problem. Once the pain has started, pain relief can be difficult to achieve.
How do you get erythropoietic porphyria?
Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.
Is Protoporphyria recessive or dominant?
Inheritance of the Porphyrias
| Type | Inheritance | Gene |
|---|---|---|
| Hepatoerythropoietic Porphyria (HEP) | Autosomal recessive | UROD |
| Hereditary Coproporphyria (HCP) | Autosomal dominant | CPOX |
| Variegate Porphyria (VP) | Autosomal dominant | PPOX |
| Erythropoietic Protoporphyria (EPP) X-linked Protoporphyria (XLP) | Autosomal recessive X-linked | FECH ALAS2 |
Is Protoporphyria recessive?
Erythropoietic protoporphyria (EPP) is inherited in an autosomal recessive manner.