Crigler-Najjar syndrome

info · Genetic

A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).

Signs and symptoms

Unconjugated hyperbilirubinemia
Jaundice
Encephalopathy
Kernicterus
Elevated circulating hepatic transaminase concentration

Also known as: Bilirubin UDP glucuronyl transferase deficiency; Crigler Najjar syndrome; Crigler-Najjar syndrome, type I