Print friendly version
Acute intermittent porphyria
Other Names for this Disease
- HMBS deficiency
- Hydroxymethylbilane synthase deficiency
- PBGD deficiency
- Porphobilinogen deaminase deficiency
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) is one of the liver (hepatic)
Last updated: 10/23/2009
- Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2011; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed 8/23/2011.
- Genetics Home Reference (GHR) contains information on Acute intermittent porphyria. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Acute intermittent porphyria. Click on the link to view a sample search on this topic.