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Hereditary coproporphyria
Other Names for this Disease
- Coproporphyria
- Coproporphyria hereditary
- Coproporphyrinogen oxidase deficiency
- CPO deficiency
- CPRO deficiency
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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]
References
- Porphyria, Hereditary Coproporphyria. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Hereditary%20Coproporphyria. Accessed November11, 2010.
- Learning about Porphyria. National Human Genome Research Institute (NHGRI). http://www.genome.gov/19016728. Accessed November 11, 2010.
- DeLoughery TG. Porphyria, Hereditary Coproporphyria. eMedicine. http://emedicine.medscape.com/article/205374-overview. Accessed November 11, 2010.
- Hereditary Coproporphyria (HCP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HCP. Accessed November 11, 2010.
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General Information
- Genetics Home Reference (GHR) contains information on Hereditary coproporphyria. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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- 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.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary coproporphyria. Click on the link to go to OMIM and review these resources.