National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Porphyria is not the name you expected.
- Acute Intermittent Porphyria
- Variegate Porphyria
- Hereditary Coproporphyria
- Porphyria Cutanea Tarda
- Congenital Erythropoietic Porphyria
- ALA-D Porphyria
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.
American Porphyria Foundation
Houston, TX 77056
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Canadian Association for Porphyria
P.O. Box 1206
Manitoba, Intl ROJ 1HO
Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
For a Complete Report
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