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.
 

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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

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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 52 free, full-text research articles on human participants. First 3 results:

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
 

Author(s): Daniel N Egan, Zhantao Yang, John Phillips, Janis L Abkowitz

Journal: Blood. 2015 Jul;126(2):257-61.

 

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation of nonphysiologic isomer I porphyrin metabolites, resulting in ineffective erythropoiesis and devastating ...

Last Updated: 10 Jul 2015

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Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
 

Author(s): Fredj ben Bdira, Esperanza González, Paula Pluta, Ana Laín, Arantza Sanz-Parra, Juan Manuel Falcon-Perez, Oscar Millet

Journal: Hum. Mol. Genet.. 2014 Nov;23(21):5805-13.

 

Congenital erythropoietic porphyria (CEP) results from a deficiency in uroporphyrinogen III synthase enzyme (UROIIIS) activity that ultimately stems from deleterious mutations in the uroS gene. C73 is a hotspot for these mutations and a C73R substitution, which drastically reduces ...

Last Updated: 9 Oct 2014

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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

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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

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Symptoms, Diagnosis, and Treatment

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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: 25 Nov 2015

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Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

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

 

Last Updated: 23 Sep 2013

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Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria
 

Status: Recruiting

Condition Summary: Acute Porphyrias

 

Last Updated: 15 Jan 2015

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