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Diseases

Genetic and Rare Diseases Information Center (GARD)

Acute intermittent porphyria


Other Names for this Disease
  • AIP
  • Porphobilinogen deaminase deficiency
  • PBGD deficiency
  • Uroporphyrinogen synthase deficiency
  • UPS deficiency
Related Diseases
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Tests & Diagnosis

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How is acute intermittent porphyria (AIP) diagnosed?

Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs.[1] The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established.[2] The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories.[1] To obtain a list of clinical laboratories offering genetic testing for AIP, click here.
Last updated: 11/12/2015

References
  1. Whatley SD, Badminton MN. Acute Intermittent Porphyria. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1193/. Accessed 11/11/2015.
  2. Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2015; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed 11/11/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • AIP
  • Porphobilinogen deaminase deficiency
  • PBGD deficiency
  • Uroporphyrinogen synthase deficiency
  • UPS deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.