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
Related Documents :
21034599 - Identification of a novel lethal fibrillin-1 gene mutation in a chinese marfan family a...
18024409 - Mutation of sbds and sh2d1a is not associated with aplastic anemia in japanese children.
10678659 - Rothmund-thomson syndrome due to recq4 helicase mutations: report and clinical and mole...
20141359 - Confirmation of adamtsl4 mutations for autosomal recessive isolated bilateral ectopia l...
15284109 - Mutations of the sbds gene are present in most patients with shwachman-diamond syndrome.
22188739 - Ancient dna extracted from danish aurochs (bos primigenius): genetic diversity and pres...
23311589 - Pool-hmm: a python program for estimating the allele frequency spectrum and detecting s...
8423609 - The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.
9329229 - Wolff award 1997. involvement of a ca2+ channel gene in familial hemiplegic migraine an...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

Previous Document:  Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient...
Next Document:  Early congenital syphilis with isolated bone involvement: a case report.