Autosomal recessive transmission of a mutation of the UGT1A 1gene (2q37). Jaundice due to unconjugated bilirubin due to complete bilirubin-glucuronyl transferase deficiency.

Types:

-         type I (severe form) [MIM 218 800]: unconjugated hyperbilirubinemia that does not or poorly responds (< 20 % decrease) to the administration of phenobarbital (5-10 mg/kg/day). Phototherapy should be continued while waiting for a liver transplantion; risk of kernicterus

-         type II [MIM 616785]: mild form; phenobarbital is effective but the bilirubin level increases in case of fasting or infection.

Anesthetic implications: 

avoid substances that may compete with bilirubin to bind to albumin. Paracetamol is metabolized in part by this glucuronyl transferase: an increased risk of toxicity is therefore theoretically possible. Morphine is metabolized by a different glucuronyl transferase.

References : 

-        Robards C, Brull SJ. 
The anesthetic implications of Crigler-Najar syndrome. 
Anesth Analg 2007; 104: 435-6. 

-         Watchko JF. 
Genetics and pediatric unconjugated hyperbilirubinemia. 
J Pediatr 2013; 162;: 1092-4.

Updated: September 2019