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Pathway Description
GLUT-1 Deficiency Syndrome
Homo sapiens
Disease Pathway
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
[Metagen: GLUT-1 DEFICIENCY SYNDROME](http://metagene.de/program/d.prg?id_d=435)
[OMIM: 606777](http://omim.org/entry/606777})
[NIH](http://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome)
Ramm-Pettersen A, Selmer KK, Nakken KO: [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]. Tidsskr Nor Laegeforen. 2011 May 6;131(8):828-31.
Pubmed: 21556087
Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM: Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiol Dis. 2012 Oct;48(1):92-101. doi: 10.1016/j.nbd.2012.04.011. Epub 2012 Apr 23.
Pubmed: 22683290
Lactose Synthesis References
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