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Genetic and Rare Diseases Information Center (GARD)

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Hereditary coproporphyria


Other Names for this Disease

  • Coproporphyria
  • Coproporphyria hereditary
  • Coproporphyrinogen oxidase deficiency
  • CPO deficiency
  • CPRO deficiency

Related Diseases

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Symptoms

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What symptoms may be associated with hereditary coproporphyria?

Most patients with defects in coproporphyrinogen oxidase never have any symptoms.[1] When symptoms do present, hereditary coproporphyria shows itself in 2 ways, as "acute attacks" and as skin problems.[2] 

Acute attacks are characterized by abdominal pain, nausea, vomiting and loss of appetite. These symptoms are often accompanied by constipation and a fast pulse rate. The urine of individuals experiencing an attack may be dark or it may darken on standing, particularly in sunlight. In rare cases, changes in the level of consciousness and various abnormalities of mental function may occur along with muscle weakness which may become life-threatening.[2] Between acute attacks, individuals are often symptom free.[1]
 
The skin manifestations are similar to those in porphyria cutanea tarda. Blisters form in sun-exposed areas and can evolve into chronic scarred areas of fragile skin. Patients also may develop excessive hair growth in sun-exposed areas.[1]
Last updated: 11/11/2010

References
  1. DeLoughery TG. Porphyria, Hereditary Coproporphyria. eMedicine. 2009; http://emedicine.medscape.com/article/205374-overview. Accessed 11/11/2010.
  2. Hereditary Coproporphyria. Canadian Porphyria Foundation. http://www.cpf-inc.ca/HCP.htm. Accessed 11/11/2010.


Other Names for this Disease
  • Coproporphyria
  • Coproporphyria hereditary
  • Coproporphyrinogen oxidase deficiency
  • CPO deficiency
  • CPRO deficiency
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.