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MeSH Review

Gilbert Disease

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Disease relevance of Gilbert Disease


High impact information on Gilbert Disease

  • Genetic deficiencies in bilirubin UDP-glucuronosyltransferase (GT) occur in >5% of the population (Gilbert's disease, Crigler-Najjar syndromes), and this could predispose such people to the toxic effects of polycyclic aromatic hydrocarbons and other environmental chemicals that are eliminated substantially by glucuronidation [6].
  • Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro) [7].
  • DNA analysis showed him to have the A-(202A,376G) variant and, as well, the UGT1A1 promoter repeat polymorphism associated with Gilbert's disease [8].


  1. Identification and characterization of a functional TATA box polymorphism of the UDP glucuronosyltransferase 1A7 gene. Lankisch, T.O., Vogel, A., Eilermann, S., Fiebeler, A., Krone, B., Barut, A., Manns, M.P., Strassburg, C.P. Mol. Pharmacol. (2005) [Pubmed]
  2. Bile acid clearance in sheep with hereditary hyperbilirubinemia. Engelking, L.R., Gronwall, R. Am. J. Vet. Res. (1979) [Pubmed]
  3. Pharmacogenetics in clinical pharmacology and toxicology. Inaba, T., Nebert, D.W., Burchell, B., Watkins, P.B., Goldstein, J.A., Bertilsson, L., Tucker, G.T. Can. J. Physiol. Pharmacol. (1995) [Pubmed]
  4. A puzzling jaundice. Pometta, R., Fraquelli, A.C., Losco, A., Conte, D. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. (2003) [Pubmed]
  5. A shortened, 2-hour rifampin test: a useful tool in Gilbert's syndrome. Hallal, H., Egea, J.M., Mas, P., García, M.D., Pérez-Cuadrado, E., Carballo, F. Gastroenterología y hepatología. (2006) [Pubmed]
  6. In vitro and in vivo biotransformation and covalent binding of benzo(a)pyrene in Gunn and RHA rats with a genetic deficiency in bilirubin uridine diphosphate-glucuronosyltransferase. Hu, Z., Wells, P.G. J. Pharmacol. Exp. Ther. (1992) [Pubmed]
  7. Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Beutler, E., Gelbart, T., Miller, W. Blood Cells Mol. Dis. (2002) [Pubmed]
  8. Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency. Herschel, M., Beutler, E. Blood Cells Mol. Dis. (2001) [Pubmed]
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