No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome

Ozer E., Aksu N., Uclar E., Erdogan H., Bakiler A., Tsuda M., ...More

PEDIATRIC NEPHROLOGY, vol.18, no.4, pp.397-398, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2003
  • Doi Number: 10.1007/s00467-003-1085-5
  • Journal Name: PEDIATRIC NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.397-398
  • Keywords: Fanconi-Bickel syndrome, SLC2A2 gene, glycogen storage disease, tubulopathy
  • Dokuz Eylül University Affiliated: No

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.