Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

Eur J Pediatr. 1999 Nov;158(11):914-6. doi: 10.1007/s004310051241.

Abstract

The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.

Publication types

  • Clinical Trial
  • Comparative Study
  • Controlled Clinical Trial

MeSH terms

  • Adult
  • Female
  • Gene Expression Regulation, Enzymologic*
  • Gilbert Disease / diagnosis
  • Gilbert Disease / physiopathology*
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase / metabolism
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Infant, Newborn
  • Jaundice, Neonatal / diagnosis
  • Jaundice, Neonatal / genetics*
  • Male
  • Monosaccharide Transport Proteins / genetics
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Reference Values
  • Risk Assessment
  • Sensitivity and Specificity

Substances

  • Monosaccharide Transport Proteins
  • UDP-galactose translocator
  • Glucosephosphate Dehydrogenase