Canadian Association for Porphyria

About Porphyria

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

Medical Disclaimer

Care has been taken to ensure that the information on this website is accurate at the time of publication. This information is, however, intended for general guidance only and is not meant to substitute consultation from a recognized health professional. The Canadian Association for Porphyria/Association Canadienne de Porphyrie disclaims for itself and for the author of this information, all responsibility for any mis-statements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.

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