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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Variegate porphyria


Other Names for this Disease

  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP

Related Diseases

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Tests & Diagnosis

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How is vareigate porphyria diagnosed?

The diagnosis of variegate porphyria is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces.[1][2] The most sensitive screening test is probably a plasma porphyrin assay.[1]
Last updated: 7/19/2010

References
  1. Variegate Porphyria (VP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed 7/19/2010.
  2. 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.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP
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.