Crigler-Najjar Type 1 syndrome: absence of hepatic bilirubin UDP-glucuronyl transferase activity and therapeutic responses to light

Aust N Z J Med. 1982 Aug;12(4):280-5. doi: 10.1111/j.1445-5994.1982.tb03812.x.

Abstract

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 mumol/l), 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bilirubin / metabolism
  • Crigler-Najjar Syndrome / enzymology*
  • Crigler-Najjar Syndrome / pathology
  • Crigler-Najjar Syndrome / therapy
  • Glucuronosyltransferase / deficiency
  • Humans
  • Hyperbilirubinemia, Hereditary / enzymology*
  • Liver / enzymology
  • Liver / pathology
  • Male
  • Phototherapy*

Substances

  • Glucuronosyltransferase
  • Bilirubin