Prolonged neonatal jaundice: a manifestation of heterozygote state for Crigler--Najjar syndrome?

J Pediatr Gastroenterol Nutr. 1982;1(2):239-41.

Abstract

A prolonged but transient neonatal jaundice due to unconjugated hyperbilirubinemia was observed in two unrelated babies who were siblings of patients with Crigler--Najjar disease (Arias type I). The bilirubin-UDP-glucuronyl transferase activity measured in the liver of both patients, at the age of 6 and 7 months, respectively, was found to be low, suggesting a permanent deficiency in bilirubin glucuronidation, which might be the expression of a heterozygote state.

MeSH terms

  • Clinical Enzyme Tests*
  • Crigler-Najjar Syndrome / complications
  • Crigler-Najjar Syndrome / genetics*
  • Genetic Carrier Screening / methods
  • Glucuronosyltransferase / metabolism*
  • Humans
  • Hyperbilirubinemia, Hereditary / genetics*
  • Infant
  • Infant, Newborn
  • Jaundice, Neonatal / etiology*
  • Liver / enzymology*

Substances

  • Glucuronosyltransferase