4-phenylbutyrate in alpha-1-antitrypsin deficiency

$0M01FY2000RRNIH

Washington University, Saint Louis MO

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Abstract

Patients homozygous for the Z mutation of the a1AT protein are at risk for liver disease as children or adults and at risk for lung disease as adults. The mutant Z protein is synthesized in the liver, but is then retained within hepatocytes rather then being efficiently secreted. This retention leads to liver injury. Low alAT serum levels lead to lung injury. 4PBA may improve hepatic secretion and treat both organs.

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