Crigler-Najjar Type 1 Syndrome: Absence of Hepatic Bilirubin UDP-Glucuronyl Transferase Activity and Therapeutic Response to Light

Abstract: Crigler-Najjartype 1 syndrome: absence of hepatic bilirubin UDP-glucuronyl transferase activity and therapeutic response to light. G. C. Farrell, J. L. Gollan, S. M. B. Stevens and J. M. Grierson, Aust. HZ. J. Med., 1982, 12, pp. 280–285.
A 16-year-old boy with severe congenital unconjugated hyperbilirubinaemia is described in whom mental retardation occurred as an isolated neurological deficit. The diagnosis of Crigler-Najjar type 1 syndrome was supported by an extreme and persistent elevation of serum unconjugated bilirubin (650 nmol/), failure of administered phenobarbitone to lower serum bilirubin concentration and family history of a similarly affected sibling. Hepatic bilirubin UDP-glucuronyl transferase activity determined in vitro by a sensitive new enzyme assay was found to be absent using bilirubin or bilirubin monoglucuronide as substrate. Phototherapy for 12 hours each night produced a partial but highly significant reduction in serum bilirubin concentration, which was not influenced further by the administration of cholestyramine.