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Congenital erythropoietic porphyria (CEP)

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 heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

Congenital erythropoietic porphyria is a subtype of which condition?

           Porphyria

How common is congenital erythropoietic porphyria?

           This type of porphyria is very rare; fewer than 200 cases have ever been reported worldwide.

What are the signs and symptoms of congenital erythropoietic porphyria?

           This condition 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 symptoms include a low number of red blood cells (anemia) and enlargement of the spleen. Symptoms usually begin during infancy (anemia 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.

What are the genetic causes of congenital erythropoietic porphyria?

           This disorder is caused by mutations in the UROS gene. UROS makes an enzyme called uroporphyrinogen III synthase, which is critical to the chemical process that leads to heme production. If gene mutations prevent sufficient activity of this enzyme, heme is not produced normally. Instead, byproducts of the process called porphyrins build up in the body (particularly in the skin), which causes the symptoms seen with this form of porphyria.

           
How do people inherit congenital erythropoietic porphyria?

           Congenital erythropoietic porphyria is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the altered gene.

What other names do people use for congenital erythropoietic porphyria?

• CEP

• Congenital porphyria

• Erythropoietic Porphyria

• Guenther porphyria

• Gunther Disease

• Gunther's Disease

• UROS deficiency

• Erythropoietic uroporphyria

• Congenital hematoporphyria