Description

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme whereas the enzymatic deficit is partial in CNS2. Numerous mutations in the UGT1A1 gene (2q37) are linked to both CNS types and result in absent or reduced bilirubin GT activity, with marked impairment of bilirubin conjugation.

External Information

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