Learn About Acute Intermittent Porphyria

What is the definition of Acute Intermittent Porphyria?
Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD 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 with nausea.
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What are the alternative names for Acute Intermittent Porphyria?
  • Acute intermittent porphyria
  • AIP
  • HMBS deficiency
  • Hydroxymethylbilane synthase deficiency
  • PBGD deficiency
  • Porphobilinogen deaminase deficiency
  • Porphyria, Swedish type
  • UPS deficiency
  • Uroporphyrinogen synthase deficiency
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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