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Congenital porphyria

Other Names for this Disease
  • CEP
  • Congenital erythropoietic porphyria
  • Günther disease
  • Porphyria, congenital erythropoietic
  • Uroporphyrinogen III synthase, deficiency of
More Names
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Overview


Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.[1]  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.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] 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.[2][1] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. [1] This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.[3]


References

  1. Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP. Accessed July 21, 2011.
  2. Congenital Erythropoietic Porphyria. British Skin Foundation. http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx. Accessed July 21, 2011.
  3. Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/263700. Accessed July 21, 2011.
  4. Hebel JL and Elston DM. Erythropoietic Porphyria. Medscape Reference. http://emedicine.medscape.com/article/1103274-overview#showall. Accessed July 21, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Congenital porphyria. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital porphyria. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital porphyria. Click on the link to go to OMIM and review these resources.