Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
Department of Paediatrics, University of Kiel, Germany. santer@pediatrics. uni-kiel.de
Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324.
Fanconi-Bickel syndrome (FBS) is a rare autosomal-recessive inborn error of metabolism characterized by hepatorenal glycogen accumulation, Fanconi nephropathy and impaired utilization of glucose and galactose. To date, no underlying enzymatic defect in carbohydrate metabolism has been identified. Therefore, and because of the impairment of both glucose and galactose metabolism, a primary defect of monosaccharide transport across membranes has been suggested. Here we report mutations in the gene encoding the facilitative glucose transporter 2 (GLUT2) in three FBS families, including the original patient described in 1949 by Fanconi and Bickel. Homozygous mutations were found in affected individuals, whereas all parents tested were heterozygous for the respective mutation. Because all detected mutations (delta T446-449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS.
范科尼-比克综合征（FBS）是一种罕见的常染色体隐性遗传性代谢紊乱疾病，其特征为肝肾糖原蓄积、范科尼肾病以及葡萄糖和半乳糖利用障碍。迄今为止，尚未发现碳水化合物代谢方面潜在的酶缺陷。因此，鉴于葡萄糖和半乳糖代谢均受损，有人提出单糖跨膜转运存在原发性缺陷。在此，我们报告了三个FBS家系中编码易化型葡萄糖转运蛋白2（GLUT2）的基因突变情况，其中包括1949年范科尼和比克描述的首例患者。在患病个体中发现了纯合突变，而所有检测的父母均为相应突变的杂合子。由于所有检测到的突变（ΔT446 - 449、C1251T和C1405T）均预示着截短的翻译产物，预计其不具有功能性单糖转运活性，所以GLUT2突变可能是FBS的病因。
