Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

Abstract excerpt

Editor—Crigler-Najjar syndrome types 1 and 2 (CN1 and CN2) are inherited as autosomal recessive conditions and are characterised by severe non-haemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, in which a virtual absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) (PIR Accession A31340) activity results in serum bilirubin levels of 340-685 μmol/l or...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Heme Oxygenase-1 and Carbon Monoxide
• Share to Methemoglobinemia and Tumor Lysis Syndrome