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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary coproporphyria


Other Names for this Disease
  • Coproporphyria
  • Coproporphyria hereditary
  • Hereditary coproporphyria porphyria
  • Porphyria hepatica coproporphyria
  • Porphyria hepatica II
Related Diseases
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Tests & Diagnosis

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How is hereditary coproporphyria diagnosed?

When hereditary coproporphyria is suspected, laboratory tests may be performed.[1] During an acute attack, the laboratory tests will show increased aminolevulinic acid and porphobilinogen in the urine and stool and at all times, patients with hereditary coproporphyria have increased porphyrin in their blood, in their urine, and in their stool.[2][3][1] The particular porphyrin the laboratory looks for in hereditary coproporphyria is coproporphyrin (especially coproporphyrin type III) and the test on a stool sample is most important. At the present time no enzyme tests are easily available to diagnose hereditary coproporphyria, even if uncertainty remains after blood, urine and stool has been examined.[1] If enzyme measurement is attempted, red blood cells should not be used, as the enzyme is found in mitochondria which are not present in red blood cells.[3]

Clinical genetic testing for hereditary coproporphyria is available. Additional information about this testing can be accessed through the GeneTests web site.

Last updated: 6/5/2009

References
  1. Hereditary Coproporphyria. Canadian Porphyria Foundation. http://www.cpf-inc.ca/HCP.htm. Accessed 11/11/2010.
  2. Porphyria, Hereditary Coproporphyria. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Hereditary%20Coproporphyria. Accessed 11/11/2010.
  3. Hereditary Coproporphyria (HCP). American Porphyria Foundation. 2009; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HCP. Accessed 11/11/2010.


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
  • Coproporphyria
  • Coproporphyria hereditary
  • Hereditary coproporphyria porphyria
  • Porphyria hepatica coproporphyria
  • Porphyria hepatica II
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.