Ketogenic Diet & Glucose Transporter 1 Deficiency Syndrome

Effects of the Ketogenic Diet in the Glucose Transporter 1 Deficiency Syndrome

The ketogenic diet (KD) has become an increasingly popular treatment for glucose transporter 1 deficiency syndrome, a defect at the blood-brain barrier. From this information, the researchers sought out to operationalize this treatment, in terms of cerebral ketone utilization on the impaired GLUT1-mediated transport. The central question or hypothesis was to confirm hypoglycorrhachia by the use of a lumbar puncture in patients who have begun a KD. Further investigation analyzed blood and cerebral spinal fluid (CSF) parameters in both non-ketogenicand ketogenic states. The parameters were selected from five out of the eighteen participants who had GLUT1 DS and lipid profiles were assessed for the next 41 months due to atherosclerosis risk factors associated with high-fat diets.

Initial lumbar punctures were taken in order to establish a diagnosis of hypoglycorrhachia The prescribed ketogenic diet consisted of a ratio of 3:1, fat:non-fat that was calorically altered to be age-appropriate per individual. Blood glucose was first analyzed and then parameters from the CSF included, cell counts, glucose, protein, and lactate concentrations. Also other parameters such as free fatty acids, OHB and AcAC were quantified for individuals in a ketogenic state.

The results of this research exhibited an initial increase in lipid parameters when beginning the KD but then showed a decrease or returned to a stable range. High-density lipoproteins had begun to decrease with the implementation of the KD but then began to rise during the follow-up. Lumbar punctures showed isolated hypoglycorrhachia, CSF/blood glucose ratio, averaging around 0.35 was indicative of GLUT1 DS, and blood glucose parameters were lower in the individuals utilizing the KD. Overall, free fatty acids, OHB, and AcAC were elevated in the blood during a KD and AcAC documented a more effective penetrance into the brain compared to OHB.

The implications of this data can be implemented to treat metabolic epilepsy syndrome caused by the impairment of glucose transport, as demonstrated by the illustrative case. Exhibiting therapeutic success in controlling seizures and having positive effects on functions and overall ability progression. This information can be extremely useful in investigating other benefits of a KD in other similar syndromes and disorders associated with specific glucose levels within the blood and CSF.