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Crigler‐Najjar Type 1 Syndrome: Absence of Hepatic Bilirubin UDP‐Glucuronyl Transferase Activity and Therapeutic Response to Light
Author(s) -
Farrell G. C.,
Gollan J. L.,
Stevens S. M. B.,
Grierson J. M.
Publication year - 1982
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1982.tb03812.x
Subject(s) - bilirubin , medicine , transferase , endocrinology , cholestyramine , unconjugated hyperbilirubinemia , hepatic dysfunction , enzyme , biochemistry , chemistry , cholesterol
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.