High serum unconjugated bilirubin levels in a patient with mutations in the UGT1A1 gene – clinical case presentation

Abstract

Background. The UGT1A1 gene plays a significant role in the glucuronidation of bilirubin, and the mutations of this gene lead to limitations in the synthesis of the glucuronyltransferase enzyme, which contributes to the increase in free serum bilirubin. This clinical condition is called Gilbert's syndrome. The patient with Gilbert syndrome has no clinical manifestations until the second decade of life. Scientific studies demonstrate that free serum bilirubin in patients with Gilbert syndrome is almost entirely unconjugated. We present the case study of a 17-year-old patient with Gilbert's syndrome, confirmed by molecular genetics tests.