The Turkish Journal of Pediatrics
2005 , Vol 47 , Num 2
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations
1Sections of Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey2 Sections of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey
3Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey Saltık-Temizel İN, Coşkun T, Yüce A, Koçak N. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr 2005; 47: 167-169.
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.
Keywords : Fanconi-Bickel syndrome, glycogenosis, mutation analysis