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
4900 Woodway, Suite 780
Houston, TX 77056-1837
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Belgian Association for Metabolic Diseases
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Fax: 03 775 48 39
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024