Discovery ofα 1-antitrypsin deficiency

Abstract

The author reviews the early history ofα ₁-antitrypsin (AAT) deficiency; the biochemical characterization of this inborn error of metabolism, its pattern of inheritance, frequency and predisposition to early, panacinar emphysema. The importance of the destructive element in emphysema and the gradual focusing on neutrophil elastase as a key enzyme in the pathogenesis of emphysema inα ₁-antitrypsin deficiency is emphasized. The deficiency state as a prototype of an endoplasmic reticulum storage disease is discussed.