Other Names for this Disease
- Porphyria variegate
- Porphyria, South African type
- Protoporphyrinogen oxidase deficiency
- PPOX deficiency
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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. The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase. Acute attacks are managed and may be prevented as in acute intermittent porphyria.Variegate porphyria is a form of
Last updated: 7/19/2010
- Variegate Porphyria (VP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed 7/19/2010.
- Porphyria, Variegate. National Organization for Rare Disorders (NORD). 2001; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Variegate. Accessed 7/19/2010.
- Porphyria. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 7/19/2010.
- Genetics Home Reference (GHR) contains information on Variegate porphyria. This website is maintained by the National Library of Medicine.
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