Supplementary file 1_Efficacy and safety evaluation of ketogenic diet therapy in patients with glucose transporter type 1 deficiency syndrome.docx

CSF analysis revealed a mean glucose level of 1.80 ± 0.33 mmol/L and a CSF-to-blood glucose ratio of 0.39 ± 0.07. Genetic testing confirmed SLC2A1 mutations in all patients, predominantly de novo variants (98.2%). KD yielded a median response time of 2 weeks.

The respective seizure control rates at 1, 3, 6, 12, and 24 months were 83.3, 95.2, 97.6, 90.0, and 85.7%. All patients with movement disorders showed improvement, with 67.6% achieving complete resolution. Furthermore, caregiver-reported language and cognitive functions showed improvement in 39.3% of patients.

The most common adverse effects of KD were mild gastrointestinal symptoms, and only one patient discontinued treatment due to intolerance.</p>Conclusion<p>Our findings support the effectiveness and acceptable short-term safety of KDT for patients with GLUT1-DS. KD was associated with improved seizure control, motor function, and caregiver-reported gains in language and cognition. These findings support current recommendations favoring early diagnosis and timely initiation of treatment.</p>