Acute intermittent porphyria
Other Names for this Disease
- Porphobilinogen deaminase deficiency
- PBGD deficiency
- Uroporphyrinogen synthase deficiency
- UPS deficiency
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Tests & Diagnosis
Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. 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. The diagnosis is confirmed in individuals with a in the HMBS , the only known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. of the HMBS detects more than 98% of individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.
Last updated: 11/12/2015
- Whatley SD, Badminton MN. Acute Intermittent Porphyria. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1193/. Accessed 11/11/2015.
- Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2015; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed 11/11/2015.
- 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.