Acute Intermittent Porphyria

Overview

Type of disease: Rare conditions

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PGBD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PGBD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain. Treatment is dependent on the symptoms.   Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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