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Alpha 1-antitrypsin deficiency

Other Names for this Disease
  • A1AT deficiency
  • AAT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
More Names
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Overview


Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.[1] Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream.[2] Because of a mutation in the SERPINA1 gene, some people have little or no AAT.[1][2] 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.[2] This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.[1]


References

  1. Alpha 1-antitrypsin deficiency. Genetics Home Reference (GHR). http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency. Accessed July 26, 2011.
  2. Alpha 1-Antitrypsin Deficiency. MedlinePlus. http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html. Accessed July 26, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Alpha 1-antitrypsin deficiency. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha 1-antitrypsin deficiency. Click on the link to view a sample search on this topic.
  • The 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.