No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome
Makaleler > Tam Makale · 2003
Yazarlar: N AKSU, E UCLAR, H ERDOGAN, AR BAKILER, M TSUDA, E KITASAWA, Mahmut ÇOKER, ELİF Ozer
PEDIATRIC NEPHROLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2003, cilt 18, ss 397-398
DOI: 10.1007/s00467-003-1085-5
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.