Ketogenic diet as medical treatment
Ketogenic diet is used not only for GLUT1 deficiency syndrome, but for several conditions – primarily drug-resistant epilepsy and selected metabolic disorders.
Ketolio started with a family living with GLUT1 deficiency syndrome, but our story is just one of many. Worldwide, far more people live with drug-resistant epilepsy and other conditions where ketogenic diet is an established treatment. This page gathers knowledge about several of these diagnoses – because good information should help all families facing the same demanding everyday life.
Ketogenic diet is not a trend, but a medical treatment that has been used for over 100 years – especially for epilepsy where medications don't work. Treatment is individually tailored and followed up by a multidisciplinary specialist team.
Conditions where ketogenic diet may be relevant
The overview is not exhaustive. Whether the diet is relevant is always assessed by a specialist in each individual case.
Drug-resistant epilepsy
Ketogenic diet is an established treatment for pharmacoresistant epilepsy – where seizures cannot be controlled with medications. This is the largest group of patients treated with the diet worldwide.
Pyruvate dehydrogenase (PDH) deficiency
An inborn metabolic disorder where the brain cannot use carbohydrates for energy. Ketone bodies can bypass the defect, and ketogenic diet is the first-line treatment.
Dravet syndrome
A severe epilepsy disorder that begins in early childhood. Ketogenic diet is used as a supplement to medication to reduce seizure frequency.
Lennox-Gastaut syndrome
A severe epilepsy disorder with multiple seizure types and cognitive impairment. Ketogenic diet can be a useful addition in treatment resistance.
Myoclonic-astatic epilepsy (Doose)
A childhood epilepsy disorder where ketogenic diet can have good effect, especially early in the course.
Infantile spasms / West syndrome
Severe seizure syndrome in infants. Ketogenic diet is considered when there is lack of response to standard treatment.
Tuberous sclerosis
A genetic condition that often causes epilepsy. Ketogenic diet may be relevant for treatment-resistant seizures.
GLUT1 deficiency syndrome
Rare genetic condition where glucose transport to the brain is reduced. Ketogenic diet is the first-line treatment, as ketone bodies serve as an alternative energy source.
What is GLUT1 deficiency syndrome?
GLUT1 deficiency syndrome (GLUT1 Deficiency Syndrome) is a rare genetic condition. The cause is a defect in the GLUT1 transporter – a protein that helps glucose get from the blood into the brain.
GLUT1 is a transporter that helps glucose get from the blood into the brain. In GLUT1 deficiency syndrome, this transport does not function normally. The brain can therefore get insufficient access to glucose, which is normally an important energy source.
Ketone bodies can serve as an alternative energy source for the brain. This is an important reason why ketogenic diet is used as treatment for GLUT1 deficiency syndrome, and this diagnosis was precisely the starting point for Ketolio.
Symptoms of GLUT1 deficiency syndrome can vary
Symptoms and severity vary from person to person. The picture is individual, and follow-up must be adapted to each person.