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Diagnosis of Gilbert’s Syndrome

Gilbert syndrome is a genetic condition and this autosomal recessive condition is characterized by intermittent jaundice in the absence of hemolysis or liver disease.
The hyperbilirubinemia is mild. By definition, bilirubin levels in Gilbert syndrome are lower than 6 mg/dL, though most patients exhibit levels lower than 3 mg/dL. Gilbert syndrome is the result of a genetic mutation in the promoter region of a gene for the enzyme UGT1A (bilirubin–uridine diphosphate glucuronyl transferase).
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