Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism resulting in familial, congenital, non-hemolytic hyperbilirubinemia. This often results in neonatal kernicterus. It is divided into two types: type I and type II (sometimes called Arias syndrome). Together with Gilbert's syndrome, these are the three known hereditary defects in bilirubin conjugation, thus all characterized by increased mono- or unconjugated (=indirect) bilirubin. Some puzzling features of these diseases have been clarified since the discovery of the uridine diphosphate glucuronyl transferase 1 (UGT1) gene complex.

Crigler-Najjar syndrome, type I

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This is a very rare disease (estimated at 0.6 - 1.0 per million live births), and consanguinity increases the risk of this condition (other rare diseases may also be present). Inheritance is autosomal recessive.

Intense jaundice appears in the first days of life and persists thereafter. Type 1 is characterised by a serum bilirubin usually above 345 µmol/L (310 - 755) (whereas the reference range for total bilirubin is 2 - 14 μmol/L).

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