Congenital Porphyria

Common Name(s)

Congenital Porphyria, Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Porphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Porphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Porphyria" returned 43 free, full-text research articles on human participants. First 3 results:

Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.
 

Author(s): Maşallah Baran, Kayı Eliaçık, Ismail Kurt, Ali Kanık, Neslihan Zengin, Ali Rahmi Bakiler

Journal: Turk. J. Pediatr.. ;55(2):218-21.

 

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all ...

Last Updated: 6 Nov 2013

Go To URL
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
 

Author(s): Jean-Marc Blouin, Yann Duchartre, Pierre Costet, Magalie Lalanne, Cécile Ged, Ana Lain, Oscar Millet, Hubert de Verneuil, Emmanuel Richard

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Nov;110(45):18238-43.

 

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in massive porphyrin accumulation in blood cells, which is responsible for hemolytic anemia and skin photosensitivity. Among ...

Last Updated: 6 Nov 2013

Go To URL
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
 

Author(s): Aurélie Bedel, Miguel Taillepierre, Véronique Guyonnet-Duperat, Eric Lippert, Pierre Dubus, Sandrine Dabernat, Thibaud Mautuit, Bruno Cardinaud, Catherine Pain, Benoît Rousseau, Magalie Lalanne, Cécile Ged, Yann Duchartre, Emmanuel Richard, Hubert de Verneuil, François Moreau-Gaudry

Journal: Am. J. Hum. Genet.. 2012 Jul;91(1):109-21.

 

Congenital erythropoietic porphyria (CEP) is due to a deficiency in the enzymatic activity of uroporphyrinogen III synthase (UROS); such a deficiency leads to porphyrin accumulation and results in skin lesions and hemolytic anemia. CEP is a candidate for retrolentivirus-mediated gene ...

Last Updated: 16 Jul 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Porphyria" returned 1 free, full-text review articles on human participants. First 3 results:

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature.
 

Author(s): P H Shaw, A J Mancini, J P McConnell, D Brown, M Kletzel

Journal: Bone Marrow Transplant.. 2001 Jan;27(1):101-5.

 

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I ...

Last Updated: 13 Mar 2001

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 19 Sep 2014

Go to URL
Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

Go to URL
Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria
 

Status: Recruiting

Condition Summary: Acute Porphyrias

 

Last Updated: 30 Jun 2014

Go to URL