Alpha-1 Antitrypsin Deficiency

Key points

• Alpha-1 antitrypsin deficiency Alpha-1 antitrypsin (A1AT) deficiency is a common inherited condition caused by a lack of a protease inhibitor (Pi) normally produced by the liver.
• located on chromosome 14
• inherited in an autosomal recessive / co-dominant fashion*
• alleles classified by their electrophoretic mobility - M for normal, S for slow, and Z for very slow
• normal = PiMM