Acute intermittent porphyria

Causes

What gene change causes acute intermittent porphyria?

A change/mutation in the gene HMBS causes acute intermittent porphyria. The genetic change makes an enzyme known as hydroxymethylbilane synthase (HMBS) work less than usual. This enzyme is also know as porphobilinogen deaminase (PBGD). This is the only gene known to cause acute intermittent porphyria and is located on chromosome 11.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
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What happens because of a change to the HMBS gene?

Does anything make acute intermittent porphyria worse?

Is a mutation of the HBMS gene a predisposition or a cause of acute intermittent porphyria?

What happens because of a change to the HMBS gene?

The genetic change makes an enzyme known as hydroxymethylbilane synthase (HMBS) work less than usual. This enzyme is also know as porphobilinogen deaminase (PBGD). When this enzyme is not working well, it can cause a build up of precursors in the liver.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193 Acute Intermittent Porphyria (AIP). American Porphyria Foundation. (http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP)
  • Acute intermittent porphyria. Orpha.net(http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11302&Disease_Disease_Search_diseaseGroup=acute-intermittent-porphyria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Acute-intermittent-porphyria&title=Acute-intermittent-porphyria&search=Disease_Search_Simple)
Does anything make acute intermittent porphyria worse?

Attacks of acute intermittent porphyria can be triggered by certain drugs, alcohol, hormones, lack of food or a new diet, and illness.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
Is a mutation of the HBMS gene a predisposition or a cause of acute intermittent porphyria?

Having a change in HMBS predisposes a person to acute intermittent porphyria, which gives them a higher chance of having attacks. However, most people with changes in HMBS never have symptoms or attacks of acute intermittent porphyria. Different people who experience acute attacks may not always have the same symptoms.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)

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