Ketogenic Diet in Rett Syndrome

Abstract

Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years. The diet was initiated at the age of 8 years owing to the patient's refractory epilepsy and led to a 70% reduction in seizures. Treatment with the ketogenic diet was also associated with improvements in contact and behavior. Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. This observation demonstrates that the ketogenic diet has a positive effect on Rett syndrome.

A role for metabolism in Rett syndrome pathogenesis

“…In this regard, ketogenic diets-which are designed to force the body to burn fats rather than carbohydrates, allowing the brain to use ketone bodies as energy sources rather than glucose-have been reported to improve RTT symptoms. 25 Therefore, pathways involved in brain energy metabolism might be excellent targets in the subsets of RTT patients presenting abnormal lipid parameters. It is possible that combination therapies that reduce lipid accumulation, while improving glucose utilization, will aid RTT patients.…”

Antiepileptic drugs in Rett Syndrome

“…Other drugs that are reportedly effective in RTT are TPM 32 and LEV. 33 Some small studies suggest that treatments such as ketogenic diet 34,35 and vagus nerve stimulation 36 may be beneficial, but no clinical data are available on RTT, and in our cases they were not given frequently enough to allow us to compare them to other AEDs.…”

Should the ketogenic diet be considered for enhancing fertility?

“…There is also evidence that the frequency of seizures from other disorders, such as Rett syndrome, is decreased with KD [20]. However, recent animal studies seem to show that this improvement may not be specific to KD, but rather to overall caloric restriction [21].…”