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Alpha 1-antitrypsin deficiency
Other Names for this Disease
- A1AT deficiency
- AAT deficiency
- Alpha 1 antitrypsin deficiency
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 Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.
Last updated: 7/26/2011
- Alpha 1-antitrypsin deficiency. Genetics Home Reference (GHR). August 2009; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency. Accessed 7/26/2011.
- Alpha 1-Antitrypsin Deficiency. MedlinePlus. January 2011; http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html. Accessed 7/26/2011.
- Genetics Home Reference (GHR) contains information on Alpha 1-antitrypsin deficiency. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alpha 1-antitrypsin deficiency. Click on the link to go to OMIM and review these resources.
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