Crigler-Najjar syndrome type 2
ORPHA:79235· ICD-10 E80.5
Definition
A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal