Overview of PorphyriaGunther disease is the one of the rarest and most severe form of porphyria. Porphyria is caused by a abnormalities of heme production. The production of heme is a multi-step chemical process. Those with porphyria are missing enzymes that are needed for the production of heme. Heme is very important for the function of many of the body's organs including the muscles and liver. Because of the abnormalities of the production of heme, the biochemical prophyrin builds up in the body which have varying effects depending on the enzyme that is missing in the production of heme.
courtesy of nejm.org
This post will focus on congenital erythropoietic porphyria also known as Gunther disease. Individuals with Gunther disease are extremely sensitive to sunlight as they lack the enzyme uroporphyrinogen III synthase.
In more severe cases of Gunther disease, symptoms appear during infancy which include:
- Extreme sensitivity to sunlight
- Porphyrin deposits in the bones and teeth
- Increased hair growth
- Blistering of the skin and severe scarring
- Loss of facial features and fingers
A man with Gunther disease, courtesy of documentingreality.com
Many patients may consider removing the spleen to reduce the production of porphyrin or receiving a bone marrow transplant. In the future patients can look to stem cell treatment or gene therapy.
A girl with severe form of Gunther disease, courtesy of crime-expertise.org