Catalog
Alpha-1-antitrypsin deficiency
Link to WHO Definition
Alpha-1-antitrypsin deficiency – http://id.who.int/icd/entity/824872160
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum.