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2005, Cilt 3, Sayı 1, Sayfa(lar) 035-038
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A Syndrome Characterized by Genetic Defect of Glucose Transporters: Fanconi Bickel Syndrome
Tuncay Küme, Zekiye S. Altun, Canan Çoker, Pınar Tuncel
Dokuz Eylül Üniversitesi Tıp Fakültesi Biyokimya Anabilim Dalı, İzmir
Keywords: Facilitative glucose transport, glut 2, glycogen storage disease type XI, Fanconi-Bickel Syndrome

Fanconi-Bickel Syndrome (FBS) is an autosomal recessive inherited disorder which has clinical symptoms and findings of both Fanconi syndrome and glycogen storage disorders. Plasma glucose homeostasis as well as intestinal and renal monosaccharide transport are defected due to a mutation in Glut-2 gene which gives rise to many different laboratory findings. A 19-months old male baby with hyperglycemia, hypouricemia, hypophosphatemia and high alkalen phosphatase was diagnosed as Fanconi-Bickel Syndrome (FBS).

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