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

Variegate porphyria


Other Names for this Disease
  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP
Related Diseases
More Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause


Newline Maker

What causes variegate porphyria? 

Variegate porphyria is caused by mutations in the PPOX gene.[1] Mutations in the PPOX gene reduce the activity of protoporphyrinogen oxidase, allowing compounds called porphyrin precursors to build up in the body. These compounds are formed during the normal process of heme production, but reduced activity of protoporphyrinogen oxidase allows them to accumulate to toxic levels. More than 130 mutations in the PPOX gene have been identified in people with variegate porphyria. A particular PPOX gene mutation is found in about 95 percent of South African families with the disorder.[2]

Nongenetic factors such as certain drugs, alcohol, dieting, as well as other genetic factors that have not been identified, also contribute to the characteristic features of variegate porphyria.[2]

Last updated: 7/19/2010

References
  1. Porphyria. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 7/19/2010.
  2. PPOX. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene/PPOX. Accessed 7/19/2010.