Experience in the Use of a Ketogenic Diet in a Patient with Type I Glucose Transporter Deficiency Syndrome (clinical observations)

This report presents our experience of the use of a ketogenic diet (KD) in the treatment of drug-resistant epilepsy in a patient with type I glucose transporter deficiency syndrome (GLUT1). The patient was a nineyear-old boy suffering from refractory epilepsy with frequent repeated myoclonic seizures due to GLUT1. Use of a KD was found to be highly effective in the treatment of this disease. Complete recovery from epileptic seizures and EEG anomalies was obtained by day 10 from the beginning of the KD. At three months, there were improvements in the cognitive domain and in the child’s verbal development. Anticonvulsants were withdrawn on the basis of the stable remission of epileptic seizures. This was followed by further improvements in intellectual functions and the psychoemotional domain; the child became able to attend a special school. At the time of writing the patient had been on the diet for one year three months. The improvements persisted and observations continue. Thus, a ketogenic diet was highly effective and is perhaps the only method currently available for the treatment of GLUT1.