Gilbert Syndrome

  • Gilbert Syndrome is a relatively common disorder characterized by episodic development of unconjugated hyperbilirubinemia due to a hereditary mutations in UGT1A1, the enzyme which conjugates bilirubin to glucuronic acid (See: Heme Degradation). These mutations slightly reduce the expression or activity of UGT1A1 leading to episodes of mild unconjugated hyperbilirubinemia induced by strenuous exercise or activity. Although this leads to episodic jaundice, there are no other clinically significant consequences to these elevations of unconjugated bilirubin.