Publication Type	Review
Authors	Birrer P, McElvaney N, Chang-Stroman L, Crystal R
Journal	J Inherit Metab Dis
Volume	14
Issue	4
Pagination	512-25
Date Published	01/01/1991
ISSN	0141-8955
Keywords	Liver Diseases, alpha 1-Antitrypsin Deficiency
Abstract	Alpha 1-antitrypsin (alpha 1AT) deficiency, one of the most common lethal hereditary disorders among Caucasians, is associated with emphysema in adults, while in children it is associated with liver disease. Produced in the liver and released into the plasma, alpha 1AT serves as the body's major inhibitor of neutrophil elastase, a powerful proteolytic enzyme capable of degrading extracellular structural proteins. The pathogenesis of the liver disease associated with alpha 1AT deficiency is not as well understood, but is clearly linked to specific mutations in coding exons of the alpha 1AT gene, and the resulting accumulation of alpha 1AT within hepatocytes. At present, therapy for the liver disease associated with alpha 1AT deficiency is symptomatic, with liver transplantation as a last resort. New strategies are being developed to suppress the accumulation of alpha 1AT by transferring the normal gene into the liver.
DOI	10.1007/BF01797921
PubMed ID	1749216