Clinical, practical, and psychosocial challenges of living with glucose transporter type 1 deficiency syndrome

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare heterogeneous metabolic disorder. Limited evidence exists regarding the lived experiences of adults with GLUT1DS. This study aimed to provide insights into the real-world impact of managing GLUT1DS from both adult patient and caregiver perspectives.

A cross-sectional survey was conducted among adults with GLUT1DS and caregivers. Survey categories included demographics, diagnosis, symptoms, treatment, rehabilitative therapies, and social support.

Thirty-six surveys were analyzed (12 patient-reported; 24 caregiver-reported). Seizures was the most commonly reported symptom followed by movement disorders including paroxysmal exertional dyskinesia, dystonia and ataxia. Both groups attempted ketogenic diet therapy (KDT), which improved seizure control and neurobehavioral symptoms at ketone levels of 2-4 mmol/L even during adulthood. Barriers including dietary restrictiveness, limited access to specialized care and challenges during transition to adult services were commonly reported. Antiseizure medications were widely used in both groups but perceived as ineffective. The patient-reported group was older at diagnosis and functionally independent, whereas the caregiver-reported group required assistance with daily activities yet achieved comparable education and employment outcomes. Puberty was identified as a vulnerable period for maintaining ketosis among the caregiver-group. Less than half of individuals successfully transitioned to an adult neurologist or dietitian for continuity of care.

The perspectives of patients and caregivers highlight unmet needs in diagnosis, KDT management, and transition care of adults with GLUTDS emphasizing the importance of ongoing research and initiatives to develop innovative multidisciplinary strategies that address the evolving neurological and functional challenges in this population.