31st July 2023

Crigler Najjar Syndrome

Crigler Najjar syndrome is an autosomal dominant condition causing absent activity of UDP glucuronyl transferase activity. In contrast to the above, the condition presents in infancy with jaundice, with or without CNS signs (secondary to kernicterus).

Bloods will again show an unconjugated hyperbilirubinaemia. The disease is life-threatening and the only cure is an urgent liver transplant.