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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alpha 1-antitrypsin deficiency


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


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What causes alpha 1-antitrypsin deficiency?

Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.[1]

Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ.[1]
Last updated: 7/26/2011

References
  1. 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.