Crigler-Najjar Type 1 syndrome: absence of hepatic bilirubin UDP-glucuronyl transferase activity and therapeutic responses to light
Farrell, G.C.; Gollan, J.L.; Stevens, S.M.; Grierson, J.M.
Australian and New Zealand Journal of Medicine 12(4): 280-285
1982
ISSN/ISBN: 0004-8291 PMID: 6814411 Document Number: 190280
A 16-yr-old boy with severe congenital unconjugated hyperbilirubinemia 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 .mu.mol/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 absent when using bilirubin or bilirubin monoglucuronide as substrate. Phototherapy for 12 h each night produced a partial, but highly significant reduction in serum bilirubin concentration, which was not influenced further by the administration of cholestyramine.