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

Simsek E., Savas-Erdeve S., Sakamoto O., Doganci T., Dallar Y.

TURKISH JOURNAL OF PEDIATRICS, cilt.51, sa.2, ss.166-168, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 2
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.166-168
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

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.