Abstracts

Rationale: To discuss our experience with the use of Ketogenic Diet (KD) in the management of children with medically intractable epilepsy and underlying mitochondrial disorders. Methods: 12 patients with medically intractable epilepsy whose evaluation included muscle biopsy were placed on KD. The isolated fresh muscle was evaluated for respiratory chain defects and found to have abnormalities in different complexes. Most patients had complex I defect. All patients had fibroblast studies that were negative for defects in fatty acid oxidation prior to initiation of the diet. All of the patients were placed on traditional KD. Diet guidelines followed our standard protocol adapted from the Johns Hopkins KD Program. They include a gradual transition into ketosis with frequent outpatient visits where appropriate labs are followed. Results: All 12 patients were followed and 6 of them continue on KD at the time of this writing. All patients were able to sustain ketosis. There have been no direct complications from the diet in the setting on mitochondrial disorders. There has been evidence of nephrolithiasis in patients concomitantly treated with Topiramate. Of the 12 patients treated, most showed a significant decrease in seizure frequency. The response was independent of the particular defect in the mitochondrial respiratory chain, and independent of the specific seizure type being treated. We will present statistical data to support findings. Conclusions: In keeping with reports from other countries, our experience confirms the safe and effective utilization of ketogenic diet in children with mitochondrial disorders. We currently await studies for fatty acid oxidation prior to initiating diet in patients who have a muscle biopsy, and measure the Calcium/Creatinine ratio for those children on Topiramate or other carbonic anhydrase inhibitors. Supplementation with L-Carnitine and Coenzyme Q-10 has continued through out the use of the diet.