Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 1
Definition
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
Also known as bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, bilirubin-UGT deficiency type 1, Crigler-Najjar syndrome, type 1, Crigler-Najjar syndrome, type I, hereditary unconjugated hyperbilirubinemia type 1, hyperbilirubinemia, Crigler-Najjar type 1, UGT deficiency type 1 — per MONDO