Review: alpha 1-antitrypsin deficiency associated liver disease.
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.
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Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA.
Teckman
J H
JH
Perlmutter
D H
DH
D000328:Adult; D000818:Animals; D002648:Child; D004721:Endoplasmic Reticulum / Q000378:metabolism / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000201:enzymology* / Q000473:pathology; D008954:Models, Biological; D017354:Point Mutation; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin