Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Understanding and Future Therapy

@article{Teckman2013LiverDI,
  title={Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Understanding and Future Therapy},
  author={Jeffrey H. Teckman},
  journal={COPD: Journal of Chronic Obstructive Pulmonary Disease},
  year={2013},
  volume={10},
  pages={35 - 43}
}
  • J. Teckman
  • Published 2013
  • Biology, Medicine
  • COPD: Journal of Chronic Obstructive Pulmonary Disease
Abstract Alpha-1 antitrypsin Deficiency (AATD) is a common, but under recognized metabolic genetic disease. Although many mutations in the alpha-1 antitrypsin (AAT) gene are described, the Z variant is the allele overwhelmingly associated with liver disease. PI*ZZ homozygotes occur in approximately 1 in 2,000-5,000 births in North American and European populations. The AAT protein is synthesized in large quantities by the liver, and then secreted into serum. Its physiologic function is to… Expand
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