Medicine:Glycogen storage disease type XI
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| Glycogen storage disease type XI | |
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| Other names | Fanconi–Bickel syndrome |
Glycogen storage disease type XI is a form of glycogen storage disease. It is also known 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?
- ↑ "Not Available". Helv Paediatr Acta 4 (5): 359–96. November 1949. PMID 15397919.
- ↑ "Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. March 2002. doi:10.2174/1566524024605743. PMID 11949937. http://www.bentham-direct.org/pages/content.php?CMM/2002/00000002/00000002/0010M.SGM. Retrieved 2019-12-30.
- ↑ "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome". Hum. Genet. 110 (1): 21–9. January 2002. doi:10.1007/s00439-001-0638-6. PMID 11810292.
- ↑ "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. October 1998. doi:10.1007/s004310050937. PMID 9809815. http://link.springer.de/link/service/journals/00431/bibs/8157010/81570783.htm. Retrieved 2008-08-20.
External links
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