The Turkish Journal of Pediatrics
2017 , Vol 59 , Num 6
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis
1 Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey2 Division of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey DOI : 10.24953/turkjped.2017.06.012 Taştemel-Öztürk T, Bilginer-Gürbüz B, Tekşam Ö, Sivri S. A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. Turk J Pediatr 2017; 59: 693-695.
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2). The disease is characterized by proximal renal tubular dysfunction, impaired glucose and galactose utilization, and accumulation of glycogen in the liver and kidney. Signs and symptoms of Fanconi-Bickel syndrome begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and short stature. Here in we report a Turkish Fanconi-Bickel syndrome case who also has situs inversus totalis and a novel mutation that has not been described before.
Keywords : Fanconi-Bickel syndrome, glycogen storage disease, situs inversus totalis, novel mutation