| Fanconi-Bickel Syndrome Presented with Diabetes
Mellitus and Galactosemia : Identification of a
Novel Mutation in the GLUT2 Gene |
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You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin, Han-Wook Yoo |
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Department of Pediatrics, College of Medicine, Ulsan University, Seoul, Korea |
| 신생아 당뇨병과 갈락토스혈증을 의심하였던Fanconi-Bickel 증후군 : 새로운 GLUT2돌연변이 유전자형 발견 |
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김유정, 임선희, 신영림, 유한욱 |
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울산대학교 의과대학 소아과학교실 |
Correspondence:
Han-Wook Yoo, Email: hwyoo@amc.seoul.kr
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| Abstract |
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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. |
| Key Words:
Fanconi-Bickel syndrome, GLUT2, Mutation |
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