Congenital Erythropoietic Porphyria
What is congenital erythropoietic porphyria?
Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in haeme production. Haeme is a vital molecule for all of the body's organs. It is a component of haemoglobin, the molecule that carries oxygen in the blood.
Congenital erythropoietic porphyria is a subtype of porphyria.
Congenital erythropoietic porphyria causes the skin to be overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, infections, scarring, changes in pigmentation, and increased hair growth. Other signs of the condition include a low number of red blood cells (anaemia) and enlargement of the spleen. Signs and symptoms usually begin during infancy (anaemia can develop before birth in some cases), but can start in childhood or adulthood. Symptoms that appear in adulthood tend to be milder than symptoms that begin early in life.
How common is congenital erythropoietic porphyria?
This type of porphyria is very rare; fewer than 200 cases have ever been reported worldwide.
What genes are related to congenital erythropoietic porphyria?
Mutations in the UROS gene cause congenital erythropoietic porphyria.
The UROS gene makes an enzyme called uroporphyrinogen III synthase, which is critical to the chemical process that leads to haeme production. If gene mutations prevent sufficient activity of this enzyme, haeme is not produced normally. Instead, byproducts of the process called porphyrins build up in the body (particularly in the skin), causing the signs and symptoms of this form of porphyria.
How do people inherit congenital erythropoietic porphyria?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
What other names do people use for congenital erythropoietic porphyria?
* CEP
* Congenital hematoporphyria
* Erythropoietic Porphyria
* Erythropoietic uroporphyria
* Guenther porphyria
* Gunther Disease
* UROS deficiency
