Alpha 1-antitrypsin deficiency
Other Names for this Disease
- AAT deficiency
- A1AT deficiency
- Alpha 1 antitrypsin deficiency
- Alpha-1-antitrypsin deficiency
 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: 9/3/2015
- Alpha-1 antitrypsin deficiency. Genetics Home Reference (GHR). January 2013; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency. Accessed 9/3/2015.
- Alpha 1-Antitrypsin Deficiency. MedlinePlus. August 2014; http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html. Accessed 9/3/2015.
- 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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