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Pathway Description
GLUT-1 Deficiency Syndrome
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
GLUT1 deficiency syndrome, also called GLUT1-DS or De Vivo disease, is an autosomal dominant disorder and caused by a defective solute carrier family 2, facilitated glucose transporter member 1. Solute carrier family 2, facilitated glucose transporter member 1 transport D-glucose from cell into Golgi apparatus which D-glucose is substrate of lactose synthase. This disorder is characterized by dissipation of D-glucose in both Golgi apparatus and cell cytoplasm. Symptoms of the disorder include developmental delays of mental and motor. There is no cure for GLUT1 deficiency syndrome currently; but diet management can help control symptoms. It is estimated that 500 cases have been reported.
References
GLUT-1 Deficiency Syndrome References
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Pubmed: 22683290
Lactose Synthesis References
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Pubmed: 8407995
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Pubmed: 16141072
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Pubmed: 12174196
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Pubmed: 19468303
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Pubmed: 20884616
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Pubmed: 15489334
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Pubmed: 1427861
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Pubmed: 1555774
Vilotte JL, Soulier S: Isolation and characterization of the mouse alpha-lactalbumin-encoding gene: interspecies comparison, tissue- and stage-specific expression. Gene. 1992 Oct 1;119(2):287-92. doi: 10.1016/0378-1119(92)90285-w.
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Shaper NL, Hollis GF, Douglas JG, Kirsch IR, Shaper JH: Characterization of the full length cDNA for murine beta-1,4-galactosyltransferase. Novel features at the 5'-end predict two translational start sites at two in-frame AUGs. J Biol Chem. 1988 Jul 25;263(21):10420-8.
Pubmed: 3134348
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Pubmed: 2504153
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Pubmed: 2654938
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Pubmed: 2190533
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 SMP0000580
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