Gilbert syndrome is a benign hereditary condition of mildly (about 40–60 %) impaired bilirubin glucuronidation, characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis (Fretzayas et al. 2012). It is the most common inherited disorder of bilirubin glucuronidation.
Synonyms and Related Disorders
Genetics/Basic Defects
- 1.
Generally considered as an autosomal recessive disorder (Chowdhury et al. 2001).
- 2.
Earlier reports suggested autosomal dominant inheritance (Foulk et al. 1959; Powell et al. 1967; Sleisenger et al. 1967).
- 3.
The number of TA repeats within the promoter region of the UGT1A1 (uridine diphosphoglucuronate-glucuronosyltransferase 1A1) gene (located at 2q37.1) ultimately influences the serum unconjugated bilirubin concentration, by reducing inducibility of the UGT1A1gene...
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References
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Chen, H. (2014). Gilbert Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_273-1
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_273-1
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