What is Porphyria?
Porphyria is a metabolic disorder that interferes with the normal production of heme - an eight step process which 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
Porphyria symptoms vary depending on which enzyme is deficient or inactive in the production of heme. Symptoms vary depending on the type of porphyria one has. Some people with porphyria are very sensitive to exposure to sunlight. Others have symptoms that affect the nervous system such as abdominal or chest pain, muscle weakness, emotional and mental disorders, and seizures.
How is porphyria diagnosed?
It is possible to diagnose porphyria by establishing that excess amounts of the heme precursors are in the blood, urine or stools. It can be difficult to diagnose porphyria because porphyria symptoms are similar to many common disorders and laboratory tests may be unreliable.
Why is it important to be diagnosed with porphyria?
How many Canadians have porphyria?
Porphyria is extremely rare. There is currently no patient registry to establish the number of Canadians with porphyria.
Porphyria is a metabolic disorder that interferes with the normal production of heme - an eight step process which 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
Porphyria symptoms vary depending on which enzyme is deficient or inactive in the production of heme. Symptoms vary depending on the type of porphyria one has. Some people with porphyria are very sensitive to exposure to sunlight. Others have symptoms that affect the nervous system such as abdominal or chest pain, muscle weakness, emotional and mental disorders, and seizures.
How is porphyria diagnosed?
It is possible to diagnose porphyria by establishing that excess amounts of the heme precursors are in the blood, urine or stools. It can be difficult to diagnose porphyria because porphyria symptoms are similar to many common disorders and laboratory tests may be unreliable.
Why is it important to be diagnosed with porphyria?
How many Canadians have porphyria?
Porphyria is extremely rare. There is currently no patient registry to establish the number of Canadians with porphyria.
