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Pathway Description
Fanconi-Bickel Syndrome
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
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
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
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Pubmed: 16141072
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Pubmed: 15489334
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Pubmed: 10814514
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Pubmed: 11137296
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Pubmed: 9445485
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000572
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