Autosomal recessive disease caused by UGT1A1 germline mutations

Synopsis

 congenital nonhemolytic jaundice
 kernicterus
 bilirubin encephalopathy
 unconjugated hyperbilirubinemia 20-30mg/dl
 absence of hepatic UDP-glucuronyl-transferase
 normal liver histology
 normal liver function tests
 very rare death in infancy secondary to kernicterus
 no response to phenobarbital

Subtypes

 Crigler-Najjar syndrome type I
 Crigler-Najjar syndrome type II

Etiology

 Crigler-Najjar syndromes are caused by mutation in the UDP-glycuronosyltransferase gene (UGT1A1) (MIM.191740).

• Mutations in UGT1A1 also cause Gilbert syndrome (MIM.143500) and Crigler-Najjar syndrome type II (MIM.606785).