Glycogen storage disease type XI
|Glycogen storage disease type XI|
|Classification and external resources|
Glycogen storage disease type XI is a form of glycogen storage disease.
It is associated with GLUT2, 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.
- synd/65 at Who Named It?
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- 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.
- 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.
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