Information and Resources

Font Size

Porphyria

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
Copyright 1990, 1991, 1992, 1994, 1996, 1997, 1998, 2000, 2001, 2004, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: August 26, 2005

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.