Abstract
Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS. We performed molecular analysis on three Japanese patients and found four novel mutations: a splice-site mutation (IVS2−2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E). Heterozygotes of L389P or V423E mutation from the patients' families showed renal glucosuria. These data suggested that GLUT2 gene defects may be a cause of renal glucosuria.
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Abbreviations
- FBS:
-
Fanconi-Bickel syndrome
- GLUT:
-
facilitative glucose transporter
- AST:
-
aspartate aminotransferase
- ALT:
-
alanine aminotransferase
- OGTT:
-
oral glucose tolerance test
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Acknowledgements
The authors thank Ms A. Fujimoto (Osaka City Environment and Public Health Association) for measuring galactose and other metabolites in dried blood spots.
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The work was supported mainly by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture and Science of Japan, and grants from the Ministry of Health and Public Welfare of Japan (Comprehensive Research on Aging and Health).
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Sakamoto, O., Ogawa, E., Ohura, T. et al. Mutation Analysis of the GLUT2 Gene in Patients with Fanconi-Bickel Syndrome. Pediatr Res 48, 586–589 (2000). https://doi.org/10.1203/00006450-200011000-00005
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DOI: https://doi.org/10.1203/00006450-200011000-00005
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