Prolonged neonatal jaundice: a manifestation of heterozygote state for Crigler--Najjar syndrome?
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.
D004796:Clinical Enzyme Tests; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D014453:Glucuronosyltransferase / Q000378:metabolism*; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D008099:Liver / Q000201:enzymology*
D014453:Glucuronosyltransferase