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GLUT1 deficiency syndrome into adulthood: a follow-up study
W G Leen1, M Taher, M M Verbeek
1Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, 935 Neurology, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands, willemijn.leen@radboudumc.nl.
Journal of Neurology
|January 14, 2014
Summary
Glucose transporter type 1 deficiency syndrome (GLUT1DS) impacts brain glucose. Epilepsy lessens in adolescence, while movement disorders like paroxysmal exercise-induced dyskinesia may emerge or worsen, with cognitive function remaining stable.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare neurometabolic disorder affecting brain glucose uptake.
- While classic phenotypes include developmental delay, epilepsy, and movement disorders, atypical presentations are increasingly identified.
- Limited data exist on the long-term disease trajectory, particularly from childhood into adulthood.
Purpose of the Study:
- To investigate the clinical course of GLUT1DS in patients with the classic, complex phenotype throughout their lifespan.
- To characterize the evolution of neurological symptoms from infancy through adulthood.
- To assess the long-term impact of GLUT1DS on cognitive function and the potential benefits of dietary interventions.
Main Methods:
- A systematic literature review was conducted to identify adult patients with GLUT1DS.
- A prospective cohort study followed seven GLUT1DS patients with complex phenotypes from childhood into adulthood.
- Data on epilepsy, movement disorders, cognitive function, and treatment response were collected and analyzed.
Main Results:
- Epilepsy is a significant feature in childhood GLUT1DS but often diminishes or resolves during adolescence.
- Paroxysmal movement disorders, particularly paroxysmal exercise-induced dyskinesia, may emerge or intensify during adolescence.
- Cognitive functions generally remained stable across the lifespan, despite the absence of systematic assessment in all cases.
Conclusions:
- GLUT1DS exhibits a dynamic clinical course, with a shift in prominent symptoms from epilepsy in childhood to movement disorders in adolescence.
- Adolescents and adults with GLUT1DS may continue to benefit from ketogenic diet therapies.
- Longitudinal studies are crucial for understanding the full spectrum and management of GLUT1DS throughout life.
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