standard of care
The recommended standard of care treatment is a medical ketogenic diet, which helps improve most symptoms for most patients, but often does not completely alleviate them. While it remains unclear the exact mechanism of ketogenic diets in Glut1 Deficiency, the general idea has been that ketones can become an alternate fuel for the brain when glucose is limited.
Sometimes, for reasons not well understood, a ketogenic diet fails to bring symptom improvement for Glut1 Deficiency patients despite reaching and maintaining therapeutic levels of ketosis. There can also be issues around compliance, or patients may experience side effects that prevent them from being able to use this treatment.
Different forms of corn starch have been added to the normal diet of some patients with the aim to stabilize glucose levels and provide a more steady, consistent supply of glucose to the brain (publication).
Recent studies have used the drug diazoxide in Glut1 Deficiency to artificially raise blood glucose above normal levels so that more glucose is available to transport to the brain. This treatment regimen uses blood glucose monitoring and adjustments similar to someone with diabetes (publication).
Formerly known as Betashot, K.Vita is a blend of medium chain fatty acids (MCT’s) including decanoic acid (C10) and octanoic acid (C8) ready mixed in a thick, yogurt-type food. Studies in Europe focused on patients with epilepsy, and some Glut1 Deficiency patients were included (publication).
Some families report benefits from using ketone supplements, either as a boost in effectiveness to the current ketogenic diet regimen or for being able to relax ratios or increase carbohydrate intake. This remains an area with ongoing studies (publication 1, publication 2).
Families have long felt that using MCT oil (medium chain triglyceride) as a fat source helps boost ketones, but there is recent evidence there are biochemical and metabolic benefits through providing extra fuel directly to neurons and astrocytes (publication) and may also impact electrophysiology in the brain and provide benefits (publication).
Triheptanoin, or C7 oil
C7 is a type of MCT oil that has been studied as a treatment in Glut1 Deficiency. Some patients have experienced benefits (publication), however, a clinical trial to develop its use as an orphan drug failed to meet endpoints for improved seizures or movement outcomes (publication).
While most medications aimed at treating seizures and movement episodes in Glut1 Deficiency do not address the underlying root causes, some patients do find benefits.
There have been no formal studies on which types of medications may be the most beneficial or which should be avoided, including those that may have interactions with a ketogenic diet. This lack of understanding makes it difficult to make medication recommendations. However, through the Collective Voices in Glut1 Deficiency project, families have reported benefits from the following medications, therapies, medical equipment, and assistive devices.
This list is for informational purposes only to share patient experiences.
- sodium valproate
- CBD oil
- lisdexamfetamine dimesylate
- methylphenidate hydrochloride
- CBD oil
Therapies and Activities
- speech and language
- behavioral and mental health as needed
- regular physical exercise
- martial arts classes for focus/attention
Medical Equipment and Assistive Devices
- ketone and glucose monitors
- communication aids
- wheel and stroller chairs
- adaptive clothing
- cooling vests