Porphyria

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Definition Symptoms Causes Risk factors When to seek medical advice

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Definition

Porphyria refers to a group of disorders that arise from problems in your body's production of a substance called heme.

Heme is found in all body tissues, but the largest amounts are in your red blood cells, bone marrow and liver. Your body uses enzymes to convert chemicals called porphyrins into heme. An inherited deficiency in one of these enzymes can interrupt this process, causing porphyrins to build up in your body.

Porphyrin buildup may cause signs and symptoms of porphyria. The specific signs and symptoms depend on which of your enzymes are abnormal, but your nervous system and skin are most often affected by porphyria.

Treatment depends on the type of porphyria you have. Although porphyria can't be cured, certain lifestyle changes may help prevent signs and symptoms of porphyria.

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Symptoms