alpha-1 antitrypsin deficiency

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A rare inherited disorder associated with lung and liver diseases. It is caused by a deficiency of α1-antitrypsin, a plasma globulin whose role is to inhibit the action of various protease enzymes (including trypsin), which protect the lungs against the action of the enzyme neutrophil elastase. This results in degradation of the elastin of alveolar walls as well as structural proteins in other tissues, including the liver. Although many patients present in childhood, the disorder can occur in adults as well.

Subjects: Medicine and Health.

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