Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel,[1][2] who first described it in 1949.
It is associated with GLUT2,[3][4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.[5]
References
- ^ synd/65 at Who Named It?
- ^ FANCONI G, BICKEL H (November 1949). "Not Available". Helv Paediatr Acta. 4 (5): 359–96. PMID 15397919.
- ^ Santer R, Steinmann B, Schaub J (March 2002). "Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. doi:10.2174/1566524024605743. PMID 11949937. Archived from the original on 2009-08-23. Retrieved 2019-12-30.
- ^ Santer R, Groth S, Kinner M, et al. (January 2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome". Hum. Genet. 110 (1): 21–9. doi:10.1007/s00439-001-0638-6. PMID 11810292.
- ^ Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998). "Fanconi–Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur. J. Pediatr. 157 (10): 783–97. doi:10.1007/s004310050937. PMID 9809815. Archived from the original on 2001-11-22. Retrieved 2008-08-20.
External links
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This page was last edited on 16 November 2022, at 12:34