Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Porphyria


Overview

What is porphyria?

What is porphyria?

The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria , acute intermittent porphyria, congenital erythropoietic porphyria , erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation and intellectual disability. There is no known cure for porphyria, but the multiple forms have different courses of treatment.[1]

Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. Porphyria can also be caused by environmental factors such as infections or exposures to certain prescription drugs. This type of porphyria is called sporadic or acquired porphyria.[2][3]

Last updated: 7/20/2011

References
  1. Porphyria. National Digestive Diseases Information Clearinghouse (NDDIC). 2008; http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/index.htm. Accessed 6/27/2011.
  2. Dugdale DC, Chen YB. Porphyria. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/porphyria.html. Accessed 6/27/2011.
  3. Porphyria. Genetics Home Reference. 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 6/27/2011.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.