Porphyria

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Important

It is possible that the main title of the report Porphyria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• None

Disorder Subdivisions

• Acute Intermittent Porphyria
• Variegate Porphyria
• Hereditary Coproporphyria
• Protoporphyria
• Porphyria Cutanea Tarda
• Congenital Erythropoietic Porphyria
• ALA-D Porphyria

General Discussion

Porphyria is a group of at least eight metabolic disorders that arise as a result of a malfunction in one of the eight steps in the body’s synthesis of a complex molecule called heme. Heme is essential for the transport of oxygen to cells in the body. If any step in the synthesis of heme is blocked, an intermediate chemical accumulates in the cell, resulting in oxygen depletion. Those intermediate chemicals, known as porphyrins or porphyrin precursors, are the substances of which heme is composed.



There are two general categories of porphyrias, those that affect the skin and those that affect the nervous system. The former are called cutaneous porphyrias. The latter are called acute porphyrias. Because the symptoms of the various porphyrias may resemble symptoms of other disorders, diagnosis may be difficult.



Each type of porphyria represents a deficiency of a specific enzyme needed for the synthesis of heme. Treatment is specific to the type of porphyria. The porphyrias are inherited conditions, but don't all follow the same mode of inheritance.

Resources

American Porphyria Foundation

4900 Woodway

Suite 780

Houston, TX 77056

Tel: (713)266-9617

Fax: (713)840-9552

Email: porphyrus@aol.com

Internet: http://www.porphyriafoundation.com



NIH/National Digestive Diseases Information Clearinghouse

2 Information Way

Bethesda, MD 20892-3570

Tel: (301)654-3810

Fax: (301)907-8906

Tel: (800)891-5389

Email: nddic@info.niddk.nih.gov

Internet: http://www.niddk.nih.gov



Canadian Porphyria Foundation, Inc.

P.O. Box 1206

Neepawa

Manitoba, Intl ROJ 1HO

Canada

Tel: (204)476-2800

Fax: (204)476-2801

Tel: 866-476-2801

Email: porphyria@cpf-inc.ca

Internet: http://www.cpf-inc.ca/



Belgian Association for Metabolic Diseases (BOKS)

Alice Nahonlann 7

Melsele, 9120

Belgium

Tel: 3237754839

Email: info@boks.be

Internet: http://www.boks.be

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  8/26/2005

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Last updated:	August 26, 2005