Crigler-Najjar syndrome
Crigler-Najjar syndrome
Definition
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 and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
Also known as bilirubin UDP glucuronyl transferase deficiency, bilirubin uridinediphosphate glucuronosyltransferase deficiency, bilirubin-UGT deficiency, Crigler Najjar Syndrome, Crigler-Najjar syndrome, hereditary unconjugated hyperbilirubinemia, UGT deficiency — per MONDO