Definition: alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is an inherited disorder of protein folding that occurs inside hepatocytes, such that the dysfunctional protein accumulates and leads to chronic inflammation and scar.  Since the a-1AT protein is not sufficiently exported to the lung, it cannot protect against proteolytic degration of elastin (and leads to periacinar emphysema).

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