All issues > Volume 44(10); 2001

Case Report

J Korean Pediatr Soc. 2001;44(10):1201-1205. Published online October 15, 2001.

Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene

You-Jeong YJ Kim¹, Sun-Hee SH Rim¹, Young-Lim YL Shin¹, Han-Wook HW Yoo¹

¹Department of Pediatrics, College of Medicine, Ulsan University, Seoul, Korea

Correspondence Han-Wook HW Yoo ,Email: hwyoo@amc.seoul.kr

Abstract

Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic β islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic proximal tubular nephropathy and severe short stature. Several cases have been reported in other countries after Fanconi and Bickel in Switzerland first reported this syndrome in 1949. We experienced the first Korean case of Fanconi-Bickel syndrome in a neonate presented with hyperglycemia and hypergalactosemia that was initially diagnosed as transient neonatal diabetes mellitus and galactosemia. We also identified a novel mutation(K5X) in the GLUT2 gene.

Keywords :Fanconi-Bickel syndrome, GLUT2, Mutation