J Gastroenterol Hepatol 1997 May;12(5):404-16

Review: alpha 1-antitrypsin deficiency associated liver disease

Qu D, Teckman JH, Perlmutter DH
Department of Pediatrics, Washington University School of Medicine, St Louis,
Missouri 63110, USA

Abstract
alpha 1-Antitrypsin (alpha 1-AT) deficiency is the most common genetic cause of
liver disease in children and genetic disease for which children undergo liver
transplantation. It also causes cirrhosis and hepatocellular carcinoma in
adults. Studies by Sveger in Sweden have shown that only a subgroup of the
population with homozygous PiZZ alpha 1-AT deficiency develop clinically
significant liver injury. Other studies have shown that the mutant alpha 1-AT Z
molecule undergoes polymerization in the endoplasmic reticulum and that a
subpopulation of alpha 1-AT-deficient individuals may be susceptible to liver
injury because they also have a trait that reduces the efficiency by which the
mutant alpha 1-AT Z molecule is degraded in the endoplasmic reticulum