doi:10.1258/000456306778520034
© 2006 Association for Clinical Biochemistry
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Review Articles
G M Hirschfield and
G J Alexander
Department of Hepatology, Box 210, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK;
Department of Hepatology, Box 210, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK
Gilbert’s syndrome (GS) is a benign and inherited state characterizedby mild, lifelong, unconjugated hyperbilirubinaemia in the absenceof haemolysis or evidence of liver disease. Its molecular basis,mutations in the TATA box upstream of the uridine diphosphoglucoseglucuronyltransferase gene, leads to impaired bilirubin glucuronidation.This synopsis outlines the pathophysiology and investigationappropriate for this innocent anomaly.
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