Gilbert syndrome

Definition:

Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.

References:

[1]. Elísio Costa, et al. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. 2006 Jan-Feb;36(1):77-80. [Content Brief]

[2]. P J Bosma, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5. [Content Brief]

[3]. Y Maruo, et al. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet. 2003 Nov;64(5):420-3. [Content Brief]

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