Journal of Turkish Clinical Biochemistry

The official publication of Turkish Society of Clinical Biochemistry

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April 01, 2005
JTCB. 2005 Apr 1; 3 (1) : 035-038

A Syndrome Characterized by Genetic Defect of Glucose Transporters: Fanconi Bickel Syndrome

1 Dokuz Eylül Üniversitesi Tıp Fakültesi Biyokimya Anabilim Dalı, İzmir

Abstract

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).

Citation

Küme, Tuncay, Zekiye S. Altun, Canan Çoker, and Pınar Tuncel. 2005. “A Syndrome Characterized by Genetic Defect of Glucose Transporters: Fanconi Bickel Syndrome”. Journal of Turkish Clinical Biochemistry 3 (1):035-038. https://turkclinbiochem.org/index.php/pub/article/view/47.

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