T. Shiohama, K. Fujii, S. Takahashi, F. Nakamura and Y. Kohno (2013). Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome. Pediatric neurology, 49(6), 493-6. https://doi.org/10.1016/j.pediatrneurol.2013.06.004

PubMed 24080273

[Abstract]
BACKGROUND: Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport.

PATIENTS: We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene.

RESULTS: We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet.

CONCLUSIONS: This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome.