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Definition
By Mayo Clinic staffPorphyria refers to a group of disorders that result in a buildup of chemicals called porphyrins in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation.
Porphyria typically affects your nervous system or skin or both. The specific signs and symptoms of porphyria depend on which of your genes is abnormal.
Treatment depends on the type of porphyria you have. Although porphyria can't be cured, certain lifestyle changes may help you manage your porphyria.
- Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/. Accessed March 24, 2009.
- Porphyria. Genetics Home Reference. Accessed March 24, 2009.
- Sassa S, et al. Understanding the porphyrias. http://www.uptodate.com/home/index.html. Accessed March 24, 2009.
- Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 24, 2009.
- About porphyria. American Porphyria Foundation. http://www.porphyriafoundation.com/. Accessed March 24, 2009.
- Anstey AV, et al. Liver diseases in erythropoietic protoporphyria: Insights and implications for management. Gut. 2007;56:1009.
- Sassa S, et al. Porphyria cutanea tarda, hepatoerythropoietic porphyria, and toxic porphyria. http://www.uptodate.com/home/index.html. Accessed April 2, 2009.
