The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 2
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome
1Departments of Pediatrics, Ankara Training and Research Hospital, Ankara, Turkey
2Departments of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
3Departments of Pediatrics, Dışkapı Children’s Hospital, Ankara, Turkey
Şimşek E, Savaş-Erdeve S, Sakamoto O, Doğancı T, Dallar Y. A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. Turk J Pediatr 2009; 51: 166-168.

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. Keywords : Fanconi-Bickel syndrome, glycogen storage disease, GLUT2 gene, mutation analysis

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