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

Hereditary coproporphyria


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.

Overview

Hereditary coproporphyria is an autosomal dominant form of liver (hepatic) porphyria that is very similar to acute intermittent porphyria, although it is usually a less severe disease.[1] It results from low levels of the enzyme responsible for the sixth step in heme production - coproporphyrinogen oxidase.[2][3] This enzyme speeds the conversion of coproporphyrinogen to protoporphyrinogen. In coproporphyria, the porphyrin precursors porphobilinogen and amino-levulinic acid (ALA) accumulate, as well as the formed porphyrin coproporphyrin. This leads to abdominal pain, neuropathies, constipation, and skin changes.[3] Treatment is dependent on the symptoms.[4]
Last updated: 11/11/2010

References

  1. 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.
  2. Learning about Porphyria. National Human Genome Research Institute (NHGRI). 2010; http://www.genome.gov/19016728. Accessed 11/11/2010.
  3. DeLoughery TG. Porphyria, Hereditary Coproporphyria. eMedicine. 2009; http://emedicine.medscape.com/article/205374-overview. Accessed 11/11/2010.
  4. Hereditary Coproporphyria (HCP). American Porphyria Foundation. 2009; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HCP. Accessed 11/11/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Hereditary coproporphyria have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary coproporphyria. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it¬†provides more information about this topic.
  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.¬†
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary coproporphyria. Click on the link to view a sample search on this topic.
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.