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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
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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]
Last updated: 7/21/2011

References

  1. Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. 2010 ; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP. Accessed 7/21/2011.
  2. Congenital Erythropoietic Porphyria. British Skin Foundation. http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx. Accessed 7/21/2011.
  3. Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). June 2011; http://omim.org/entry/263700. Accessed 7/21/2011.
  4. Hebel JL and Elston DM. Erythropoietic Porphyria. Medscape Reference. January 2009 ; http://emedicine.medscape.com/article/1103274-overview#showall. Accessed 7/21/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital porphyria. This website is maintained by the National Library of Medicine.
  • 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.

In Depth 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • CEP
  • Congenital erythropoietic porphyria
  • Günther disease
  • Porphyria, congenital erythropoietic
  • Uroporphyrinogen III synthase, deficiency of
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.