What is Porphyria?
Porphyria is a metabolic disorder that interferes with the normal production of heme - an eight step process that is vital to the transportation of oxygen in the blood and in breaking down chemicals in the liver so that they can be removed from the body. People with porphyria have problems with the production of enzymes which results in an accumulation of heme precursors.
Porphyria symptoms vary depending on which enzyme is deficient or inactive in the production of heme. Some people with porphyria are very sensitive to sunlight, while others have symptoms that affect the nervous system such as abdominal or chest pain, muscle weakness, emotional or mental disorders, and seizures. Some porphyrias have both the skin and nervous system symptoms.
Source: This information originally appeared in a booklet written for the Canadian Porphyria Foundation: A Guide to Porphyria (1991) by Dr. Barry A. Tobe, MD, Ph.D, FRCP(C), Toronto, Ontario, Canada. The content has been updated by Dr. Brian M. Gilfix, MDCM, PhD, FRCPC, DABCC, FACB on 22/03/2015.
Last Updated: 22/March/2015