Definition and Characteristics
Diffusion of glucose, the principal fuel source for the brain, across the blood-brain barrier is facilitated by glucose transporter protein type 1 (Glut-1). Heterozygous mutations in the SLC2A1 (GLUT1) gene impair glucose transport into the brain [1]. The classic phenotype of this autosomal-dominant condition, designated Glut-1 deficiency syndrome (Glut-1 DS, MIM #606777), is characterized by epilepsy with infant-onset seizures, deceleration of head growth, severe motor and mental developmental delay, and a complex movement disorder with spasticity, dystonia, and ataxia. Since the first description of Glut-1 DS in 1991 [2], a carbohydrate-responsive familial phenotype with clinical features aggravated by fasting and mitigated by carbohydrate intake [3] and single case reports of patients with mild mental retardation and intermittent ataxia or predominant dystonia, but without epilepsy, have been reported.
Prevalence
The prevalence of Glut1-DS has been...
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References
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Brockmann, K., Wang, D., De Vivo, D.C. (2009). Glut-1 Deficiency Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_708
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DOI: https://doi.org/10.1007/978-3-540-29676-8_708
Publisher Name: Springer, Berlin, Heidelberg
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