antitrypsin deficiency

an·ti·tryp·sin de·fi·cien·cy

deficiency of α1-antitrypsin, a serum protease inhibitor, is associated with emphysema and/or liver cirrhosis. By isoelectric focusing, numerous variants have been identified, with different levels of normal activity; autosomal recessive inheritance, caused by mutation in the P1 gene on chromosomal 14q.