ReviewJournal of inherited metabolic disease2025
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Glucose Transporter Type 1 Deficiency Syndrome: Clinical Variability and Challenges in Ketogenic Diet Management in a Paediatric Case Series.Journal of clinical medicine · 2026Article
- Glucose Transporter 1 in Health and Disease.MedComm · 2026Review
- Hypothalamic astrocytes: connecting brain and periphery in metabolic control.Reviews in endocrine & metabolic disorders · 2026Review
- ILAE dietary treatments task force special report: Maternal ketogenic diet exposure in epilepsy pregnancy registries-A call to action.Epilepsia open · 2026Article
- Direct targeting of GLUT1 in cancer: A decade of inhibitor discovery and medicinal chemistry insights.Medicinal chemistry research : an international journal for rapid communications on design and mechanisms of action of biologically active agents · 2026Review
- GLUT1 deficiency syndrome in adulthood: lost in diagnosis.BMJ neurology open · 2026Article
- Polystyrene Micro- and Nanoplastic Exposure Triggers an Activation and Stress Response in Human Astrocytes.International journal of molecular sciences · 2025Article
- Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.Journal of clinical medicine · 2025Review
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glut1 Deficiency Syndrome (Glut1DS) has emerged as a treatable, but complex entity. Increasing data on pathogenic mechanisms, phenotype, genotype, and ketogenic dietary therapies (KDT) are available, as summarized in this review. Many challenges remain: novel symptoms emerge and vary with age. In Glut1DS, KDT in pregnancy and the clinical features in neonates and adults are poorly understood. KDT are ineffective in some patients for reasons yet unknown. Research reaches beyond the concept of brain energy depletion by impaired GLUT1-mediated glucose transfer across the blood-brain barrier. Novel concepts investigate alternative substrates, transport mechanisms, and metabolic interactions of different brain cell types. Future, yet currently unavailable prospects are neonatal screening for Glut1DS, reliable biomarkers, predictors for outcome, and alternative therapies, along with and beyond KDT.
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Registered trials
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