title: No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
abstract: Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene. Therefore, we propose that further molecular analysis is needed to determine whether other genes are involved in FBS.
authors.affiliation: Pediatric Clinic, SSK Tepecik Teaching Hospital, Tepecik, Izmir, Turkey. eozer@deu.edu.tr
authors.forename: Esra Arun
authors.initials: EA
authors.lastname: Ozer
authors.forename: Nejat
authors.initials: N
authors.lastname: Aksu
authors.forename: Erkan
authors.initials: E
authors.lastname: Uclar
authors.forename: Hakan
authors.initials: H
authors.lastname: Erdogan
authors.forename: Ali Rahmi
authors.initials: AR
authors.lastname: Bakiler
authors.forename: Masahiko
authors.initials: M
authors.lastname: Tsuda
authors.forename: Emiko
authors.initials: E
authors.lastname: Kitasawa
authors.forename: Mahmut
authors.initials: M
authors.lastname: Coker
authors.forename: Erdener
authors.initials: E
authors.lastname: Ozer
mesh_terms: D005260:Female; D051273:Glucose Transporter Type 2; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D006801:Humans; D007223:Infant; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010758:Phosphorus / Q000627:therapeutic use; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D014807:Vitamin D; D010758:Phosphorus