Other Names for this Disease
- Congenital erythropoietic porphyria
- Porphyria, congenital erythropoietic
- Günther disease
- Uroporphyrinogen III synthase, deficiency of
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.Congenital erythropoietic porphyria (CEP) is the rarest
Last updated: 7/21/2011
- Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. 2010 ; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP. Accessed 7/21/2011.
- Congenital Erythropoietic Porphyria. British Skin Foundation. http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx. Accessed 7/21/2011.
- Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). June 2011; http://omim.org/entry/263700. Accessed 7/21/2011.
- Hebel JL and Elston DM. Erythropoietic Porphyria. Medscape Reference. January 2009 ; http://emedicine.medscape.com/article/1103274-overview#showall. Accessed 7/21/2011.
- 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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. 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.