A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome

Turk J Pediatr. 2009 Mar-Apr;51(2):166-8.


Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose transporter 2 (GLUT2) gene (SLC2A2) on chromosome 3q26.1-26.3, which encodes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Several mutations in a gene encoding a glucose transporter have been reported in patients with Fanconi-Bickel syndrome. Here we report a Turkish child who had a novel mutation that has not been described before and we discuss the knowledge regarding genetic mutations in this rare disease.

Publication types

  • Case Reports

MeSH terms

  • Calcitriol / therapeutic use
  • Child, Preschool
  • Codon, Nonsense*
  • Diet Therapy
  • Familial Hypophosphatemic Rickets / diagnosis
  • Familial Hypophosphatemic Rickets / genetics*
  • Familial Hypophosphatemic Rickets / therapy
  • Female
  • Glucose Transporter Type 2 / genetics*
  • Glycogen Storage Disease / diagnosis
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease / therapy
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Growth Disorders / therapy
  • Humans
  • Phosphorus, Dietary / therapeutic use
  • Syndrome
  • Turkey


  • Codon, Nonsense
  • Glucose Transporter Type 2
  • Phosphorus, Dietary
  • Calcitriol