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Acute intermittent porphyria
Other Names for this Disease
- HMBS deficiency
- Hydroxymethylbilane synthase deficiency
- PBGD deficiency
- Porphobilinogen deaminase deficiency
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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.
- Acute Intermittent Porphyria (AIP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed August 23, 2011.
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