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Pathway Description
Fanconi-Bickel Syndrome
Homo sapiens
Disease Pathway
Fanconi-Bickel Syndrome is a syndrome first described in 1949, by Falconi and Bickel, where the body is missing a glucose transport, causing glycogen stores to accumulate and cause symptoms such as swelling of the liver and spleen, rickets, and failure to thrive. Hypoglycemia may occur in between meals for patients with this condition. This condition happens through a mutation on the SLC2A2 gene, which has the instructions on how to create a protein which is the glucose-transporter protein 2 (GLUT2). GLUT2 does not work properly when there is an SLC2A2 gene mutation, which makes glycogen build up in the liver and kidneys, causing the symptoms of this condition.
References
Fanconi-Bickel Syndrome References
[Metagen: FANCONI-BICKEL SYNDROME](http://metagene.de/program/d.prg?id_d=436)
[OMIM: 227810](http://omim.org/entry/227810})
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B: 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. 1998 Oct;157(10):783-97.
Pubmed: 9809815
Santer R, Steinmann B, Schaub J: Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med. 2002 Mar;2(2):213-27.
Pubmed: 11949937
http://www.malacards.org/card/fanconi_bickel_syndrome
Glycolysis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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