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CASE REPORT
Korean J Pediatr 2001 October;44(10) :1201-1205.
Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
You-Jeong Kim (Kim YJ), Sun-Hee Rim (Rim SH), Young-Lim Shin (Shin YL), Han-Wook Yoo (Yoo HW)
Department of Pediatrics, College of Medicine, Ulsan University, Seoul, Korea
Corresponding Author: Han-Wook Yoo ,Email: hwyoo@amc.seoul.kr
Copyright © 2001 by The Korean Pediatric Society
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 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
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