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