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Medline ® Abstract for Reference 42

of 'Gilbert syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction'

Drug-mediated toxicity caused by genetic deficiency of UDP-glucuronosyltransferases.
Burchell B, Soars M, Monaghan G, Cassidy A, Smith D, Ethell B
Toxicol Lett. 2000;112-113:333.
Human gene families encoding UDP-Glucuronosyltransferases (UGTs) have been identified and partially characterised. This family of enzymes catalysed the glucuronidation of drugs, xenobiotics and endobiotics. Genetic mutations and polymorphisms have been identified in several UGT genes and examples should be anticipated in all UGT genes. A common genetic defect in the TATA box promoter of the UGT1A1 gene is associated with Gilbert's Syndrome (GS) causing mild hyperbilirubinaemia. Recently, adverse effects of anticancer agents have been observed in Gilbert's patients due to reduced drug or bilirubin glucuronidation.
Department of Molecular Pathology, Ninewells Medical School, University of Dundee, Dundee, UK. b.burchell@dundee.ac.uk