Ketogenic Diets

There is currently no cure for Glut1 Deficiency. Treatment is aimed at controlling symptoms by addressing what is thought to be the fundamental issue of Glut1 Deficiency – a metabolic crisis in the brain due to impaired glucose transport across the blood brain barrier. The current standard of care is a medically supervised ketogenic diet.

The ketogenic diet is a high fat, moderate protein, and low carbohydrate diet that causes the body to produce and burn ketones for fuel in the absence of adequate glucose. These ketones can act as an alternative fuel source, and there may be other benefits of ketosis that can help alleviate some of the symptoms of Glut1 Deficiency and help supply better nourishment for the developing brain.

A ketogenic diet is also used as an effective treatment against seizures in the general epilepsy population, typically in children but increasingly also in adults. In its general application, it is often used after 2-3 anticonvulsant medications have failed. It is showing promise in helping other neurological conditions as well.

Medical ketogenic diets are carefully tailored to individual patients, have potential side effects, and should only be used under the care of medical professionals. Ketogenic diets can help improve most symptoms associated with Glut1 Deficiency, but often do not completely control them. Other forms of treatment are currently under investigation by Glut1 Deficiency researchers, but as of now there are no other available treatments approved specifically to treat the underlying mechanisms of Glut1 Deficiency.

It can take some time for the full potential of the diet to take effect, and adjustments and modifications are sometimes required with the parameters of the diet (ratio, calories, protein levels, number and timing of meals, fat sources, etc.). Anticonvulsant medications can often be reduced or discontinued, as they are generally not very effective in treating the seizures caused by Glut1 Deficiency because they do not address the underlying disease mechanisms. However, it is not unusual for children with Glut1 Deficiency to remain on and benefit from a single anticonvulsant along with the diet.

Early diagnosis is vitally important so the diet can be initiated as soon as possible to help control symptoms and better preserve brain growth and development, and also to avoid often ineffective and potentially harmful medication trials and side effects. Experts recommend continuing the diet as long as possible, and many patients continue to experience benefits from the diet even well into adulthood.

While the classical ketogenic diet (a 3:1 or 4:1 ratio) is the standard of care, especially for young patients with Glut1 Deficiency, other forms of the diet have been used by families with positive results – Modified Ketogenic Diet, MCT Diet, Modified Atkins Diet, and the Low Glycemic Index Diet. These diets are slightly less restrictive so they may have particular advantages when there are compliance issues, but they all can produce varying levels of ketosis.