Crigler-Najjar syndrome (Q40115)

Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.