Document Detail

A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
MedLine Citation:
PMID:  19480329     Owner:  NLM     Status:  MEDLINE    
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.
Enver Simşek; Senay Savaş-Erdeve; Osamu Sakamoto; Tümay Doğanci; Yildiz Dallar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  51     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2009 Mar-Apr
Date Detail:
Created Date:  2009-06-01     Completed Date:  2009-06-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  166-8     Citation Subset:  IM    
Department of Pediatrics, Ankara Training and Research Hospital, Ankara, Turkey.
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MeSH Terms
Calcitriol / therapeutic use
Child, Preschool
Codon, Nonsense*
Diet Therapy
Glucose Transporter Type 2 / genetics*
Glycogen Storage Disease / diagnosis,  genetics*,  therapy
Growth Disorders / diagnosis,  genetics*,  therapy
Hypophosphatemic Rickets, X-Linked Dominant / diagnosis,  genetics*,  therapy
Phosphorus, Dietary / therapeutic use
Reg. No./Substance:
0/Codon, Nonsense; 0/Glucose Transporter Type 2; 0/Phosphorus, Dietary; 32222-06-3/Calcitriol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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