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., ...Daha Fazla

PEDIATRIC NEPHROLOGY, cilt.18, sa.4, ss.397-398, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1007/s00467-003-1085-5
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.397-398
  • Anahtar Kelimeler: Fanconi-Bickel syndrome, SLC2A2 gene, glycogen storage disease, tubulopathy
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.