UGT1a1 Gene Mutations in a Tibetan Patient with Crigler-Najjar Syndrome

Crigler-Najjar Syndrome (CNS) is un conjugated hyperbilirubinemia caused by mutations in bilirubin UDP-glucuronosyl transferase (UGT1A1) gene which can transform the un conjugated bilirubin by conjugating it with glucuronic acid. There are two types of CNS.CNS-I is fatal because of the bilirubin encephalopathy combined with severe un conjugated hyperbilirubinaemia, while CNS-II is a moderate form of hyperbilirubinemia and can be treated with phenobarbital therapy. The CNS-II has never been reported in Tibetan population. This is the first reported case of Tibetan patient with CNS-II based on the UGT1A1 gene analysis.