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Copyright 1990, 1991, 1992, 1994, 1996, 1997, 1998, 2000, 2001, 2004, 2005
Synonyms of Porphyria
Disorder Subdivisions
- Acute Intermittent Porphyria
- ALA-D Porphyria
- Congenital Erythropoietic Porphyria
- Hereditary Coproporphyria
- Porphyria Cutanea Tarda
- Protoporphyria
- Variegate 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.
Organizations related to Porphyria
- American Porphyria Foundation
4900 Woodway
Suite 780
Houston TX 77056
Phone #: 713-266-9617
800 #: --
e-mail: porphyrus@aol.com
Home page: http://www.porphyriafoundation.com
- Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele None 9120
Phone #: 323-775-4839
800 #: N/A
e-mail: info@boks.be
Home page: http://www.boks.be
- Canadian Association for Porphyria
P.O. Box 1206
Neepawa
Manitoba Intl ROJ 1HO
Phone #: (20-4)4-76-2800
800 #: N/A
e-mail: N/A
Home page: http://www.cpf-inc.ca/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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