DefinitionBy Mayo Clinic staff
Porphyria (poor-FEAR-ee-uh) refers to a group of disorders that result in a buildup of chemicals called porphyrins in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation.
Porphyria typically affects your nervous system or skin or both. The specific signs and symptoms of porphyria depend on which of your genes is abnormal. Porphyria is usually inherited, but environmental factors may trigger the development of symptoms in some types of porphyria.
Treatment depends on the type of porphyria you have. Although porphyria usually can't be cured, certain lifestyle changes may help you manage porphyria.
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