A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia

J Inherit Metab Dis. 2004;27(2):279-80. doi: 10.1023/b:boli.0000028841.00833.f4.

Abstract

A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.

Publication types

  • Case Reports

MeSH terms

  • Fanconi Syndrome / complications
  • Fanconi Syndrome / diagnosis*
  • Fanconi Syndrome / genetics*
  • Galactosemias / diagnosis*
  • Galactosemias / etiology
  • Galactosemias / genetics*
  • Gene Deletion
  • Glucose Transporter Type 2
  • Humans
  • Infant, Newborn
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Neonatal Screening

Substances

  • Glucose Transporter Type 2
  • Monosaccharide Transport Proteins