GLUT1 Deficiency Syndrome

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Xu, C. GLUT1 Deficiency Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3937 (accessed on 28 September 2026).

Xu C. GLUT1 Deficiency Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3937. Accessed September 28, 2026.

Xu, Camila. "GLUT1 Deficiency Syndrome" Encyclopedia, https://encyclopedia.pub/entry/3937 (accessed September 28, 2026).

Xu, C. (2020, December 23). GLUT1 Deficiency Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3937

Xu, Camila. "GLUT1 Deficiency Syndrome." Encyclopedia. Web. 23 December, 2020.

GLUT1 Deficiency Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome

GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.

genetic conditions

References

Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009 Aug;31(7):545-52. doi: 10.1016/j.braindev.2009.02.008.Review.
Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T.Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics.2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264.
Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011.02.007.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, WeversRA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F,Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L,McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, RauscherC, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P,Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Glucosetransporter-1 deficiency syndrome: the expanding clinical and genetic spectrum ofa treatable disorder. Brain. 2010 Mar;133(Pt 3):655-70. doi:10.1093/brain/awp336.
Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA.Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: asystematic review. JAMA Neurol. 2013 Nov;70(11):1440-4. doi:10.1001/jamaneurol.2013.3090. Review.
Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia. ArchNeurol. 2007 Apr;64(4):507-13.
Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. GLUT1deficiency and other glucose transporter diseases. Eur J Endocrinol. 2004May;150(5):627-33. Review.
Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrumof glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr NeurolNeurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Review.
Rotstein M, Engelstad K, Yang H, Wang D, Levy B, Chung WK, De Vivo DC. Glut1deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol.2010 Dec;68(6):955-8. doi: 10.1002/ana.22088.
Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome.2002 Jul 30 [updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1430/
Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Glut-1deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005Jan;57(1):111-8.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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