J Korean Pediatr Soc.  2001 Oct;44(10):1201-1205.

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

• Kim YJ
• Rim SH
• Shin YL
• Yoo HW

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 beta 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.

Keyword

Fanconi-Bickel syndrome; GLUT2; Mutation

MeSH Terms

Carbohydrate Metabolism
Diabetes Mellitus*
Fanconi Syndrome*
Galactose
Galactosemias*
Glucose
Glucose Transport Proteins, Facilitative
Glycogen
Hepatomegaly
Humans
Hyperglycemia
Hypoglycemia
Infant, Newborn
Intestines
Kidney
Liver
Switzerland
Galactose
Glucose
Glucose Transport Proteins, Facilitative
Glycogen