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Variegate porphyria

Other Names for this Disease
  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP
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Overview


Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity.[1][2] The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase.[3] Acute attacks are managed and may be prevented as in acute intermittent porphyria.[1]


References

  1. Variegate Porphyria (VP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed July 19, 2010.
  2. Porphyria, Variegate. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Variegate. Accessed July 19, 2010.
  3. Porphyria. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=porphyria. Accessed July 19, 2010.
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General Information

  • Genetics Home Reference (GHR) contains information on Variegate porphyria. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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.
  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Variegate porphyria. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Variegate porphyria. Click on the link to go to OMIM and review these resources.