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Porphyria Overview of Porphyria Porphyria is a rare disorder varcharacterized by excessive formation and excretion of porphyrins. These chemical compounds are normally utilized in heme production for hemoglobin. The disorders are classified as either erythropoietic or hepatic, depending of the site of overproduction and accumulation. These disorders can be inherited or acquired due to a genetic mutation. Causes of Porphyria This group of disorders is caused by either an inherited or acquired disorder involving enzymes of the heme pathway. This enzymatic pathway is primarily involved with producing heme for the hemoglobin in red cells. It also produces heme in the liver. Signs and Symptoms of Porphyria The hepatic porphyrias tend to produce neurological symptoms, abdominal pain, mental changes and numbness or tingling of the extremities due to damage of the peripheral nerves. The erythropoietic group varcharacteristically produces excessive sensitivity of the skin to sunlight. Other symptoms that can occur include depression, mania, muscles cramps and weakness and excessive hair growth. advertisement Find more information

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