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Definition

By Mayo Clinic staff

Porphyria (poor-FEAR-ee-uh) 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. Porphyria is usually inherited, but environmental factors may trigger the development of symptoms in some types of porphyria.

Treatment depends on the type of porphyria you have. Although porphyria usually can't be cured, certain lifestyle changes may help you manage porphyria.

Symptoms
References
  1. Puy H, et al. Porphyrias. The Lancet. 2010;375:924.
  2. Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 22, 2011.
  3. Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/Porphyria.pdf. Accessed March 22, 2011.
  4. Anderson KF. Porphyrias: An overview. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
  5. Porphyrias. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec12/ch155/ch155a.html. Accessed March 22, 2011.
  6. Desnick RJ, et al. The porphyrias. In: Fauci AS, et al. Harrison's Online. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/content.aspx?aID=2883658. Accessed March 22, 2011.
  7. Singal AK, et al. Porphyria cutanea tarda and hepatoerythropoietic porphyria. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
  8. Wolanskyj AP (expert opinion). Mayo Clinic, Rochester, Minn. April 5, 2011.
DS00955 May 7, 2011

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