Alpha-1-antitrypsin deficiency: a biological enigma.

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Abstract
The association of certain forms of liver disease and a deficiency of .alpha.-1-antitrypsin raises the possibility that other forms of liver disease ultimately may have as their proximate cause a defined metabolic aberration, which may be inherited. Although .alpha.-1-antitrypsin deficiency is a genetically determined error of protein synthesis, environmental factors, unrecognized at present, are required for the disease to become expressed. This association may result in an increasing number of clinical diseases in which the interaction of environmental stimuli and single genetically determined aberrations are crucially important. Human diseases may be largely determined by a genetically determined susceptibility.