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  • Title: A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
    Author: Simşek E, Savaş-Erdeve S, Sakamoto O, Doğanci T, Dallar Y.
    Journal: Turk J Pediatr; 2009; 51(2):166-8. PubMed ID: 19480329.
    Abstract:
    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.
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