GLUT1 deficiency syndrome in adulthood: lost in diagnosis
Diagnostic delay in adults with GLUT1DS is more likely due to limited clinical awareness than to atypical presentations. The most effective model of care for individuals with GLUT1DS might be multidisciplinary involving paediatric and adult neurologists, rehabilitation professionals, clinical psychologists, clinical nutritionists and dietitians to support motor, cognitive and emotional functioning, thereby promoting autonomy, improving quality of life and addressing challenges associated with ketogenic diet adherence.
Authors
- Chiara Benzoni (ORCID: https://orcid.org/0000-0002-8801-9114)
- Luca Gianola
- Pierangelo Veggiotti (ORCID: https://orcid.org/0000-0003-2851-3441)
- Camilla Segarizzi
- Lara Adami
- Tiziana Granata
- Chiara Benvenuto
- Francesca Ragona
- Roberto Previtali
Institutions
- University of Milan (IT)
- Ospedale dei Bambini Vittore Buzzi (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- BMJ Neurology Open
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1136/bmjno-2025-001337
- Citations
- 1
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 32.84