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Porphyria
Important
It is possible that the main title of the report Porphyriais not the name you expected.
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
porphyrus@aol.com
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
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
Canadian Association for Porphyria
P.O. Box 1206
Neepawa
Manitoba
Intl
ROJ 1HO
Canada
Tel: (204)476-2800
Fax: (204)476-2801
http://www.cpf-inc.ca/
Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele
9120
Belgium
Tel: 3237754839
info@boks.be
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
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