Glucose Transporter 1
If you are looking for more information regarding the glucose transporter 1 (Glut1) and Glut1 deficiencies, we hope that you will find our website an excellent source of information.
Glucose transporter 1 Deficiency is a rare genetic condition that affects brain metabolism. It is caused by a mutation in the SLC2A1 gene which regulates the glucose transporter protein type 1 (Glut 1). Impaired glucose transport associated with Glut1 Deficiency creates an energy crisis in the brain and often results in seizures, movement disorders and developmental delays. The standard of care treatment is a ketogenic diet. This low-carbohydrate, high-fat diet causes the body to produce ketones, which are used as an energy source by the brain and other tissues when glucose is limited.
What is Glucose Transporter 1?
GLUT1 was the first glucose transporter 1 to be characterized. GLUT 1 is highly conserved. GLUT 1 of humans and mouse has 98% homology. GLUT 
1 has 40% homology with other GLUTs.
GLUT1 behaves as a Michaelis-Menten enzyme and contains 12 membrane-spanning alpha helices, each containing 20 amino acid residues. A helical wheel analysis shows that the membrane spanning alpha helices are amphipathic, with one side being polar and the other side hydrophobic. Six of these membrane spanning helices are believed to bind together in the membrane to create a polar channel in the centre through which glucose can traverse, with the hydrophobic regions on the outside of the channel adjacent to the fatty acid tails of the membrane.
Clinical Significance of Glucose Transporter 1
Mutations in the GLUT1 gene are responsible for GLUT1 deficiency or De Vivo disease, which is a rare autosomal dominant disorder. This disease is characterized by a low cerebrospinal fluid glucose concentration (hypoglycorrhachia), a type of neuroglycopenia, which results from impaired glucose transport across the blood–brain barrier.
GLUT1 is also a receptor used by the HTLV virus to gain entry into target cells.
Glut1 has also been demonstrated as a powerful histochemical marker for haemangioma of infancy
Perhaps the most important question relating to this subject is what actually is the ketogenic diet? Below we identify this in greater detail.
What Is A Ketogenic Diet?
A medical ketogenic diet is a very low carbohydrate, high fat diet which changes the metabolism in the body from burning glucose for energy to burning fat for energy. It is currently a recognised treatment for intractable (drug resistant) epilepsy, Glut 1 Deficiency and Pyruvate Dehydrogenase Deficiency. Increasingly the diet is being looked at in other neuro-metabolic conditions as well as Brain Cancer.
What is the Purpose of the Ketogenic Diet?
The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet that in medicine is used primarily to treat difficult-to-control (refractory) epilepsy in children. The diet forces the body to burn fats rather than carbohydrates.
Normally, the carbohydrates contained in food are converted into glucose, which is then transported around the body and is particularly important in fuelling brain-function. However, if there is very little carbohydrate in the diet, the liver converts fat into fatty acids and ketone bodies.
The ketone bodies pass into the brain and replace glucose as an energy source. An elevated level of ketone bodies in the blood, a state known as ketosis, leads to a reduction in the frequency of epileptic seizures.
Who Can The Ketogenic Diet Help?
The ketogenic diet is a first-line treatment for the neurometabolic diseases glucose transporter type 1 (GLUT1) deficiency syndrome and pyruvate dehydrogenase (PDH) deficiency. Although clinical evidence is more limited, ketogenic therapy is also increasingly being explored as a treatment option for other disorders such as neurological cancers.
Both traditional and modified diets have been shown to be successful in the treatment of epilepsy. Choice will depend on the individual’s age, dietary preference, and lifestyle, taking into account palatability and ease of use for both the child/adult and the family. The classical ketogenic diet is usually preferred in infants and classical ketogenic formulae are used for tube feeding. Modified regimes have benefits for the older child and adult who prefer a less restricted diet.
- The diet is usually not recommended for adults, mostly because the restricted food choices make it hard to follow. Yet, studies done on the use of the diet in adults show that it seems to work just as well.*
- The ketogenic diet has been shown in small studies (case reports and case series) to be particularly helpful for some epilepsy conditions. These include infantile spasms, Rett syndrome, tuberous sclerosis complex, Dravet syndrome, Doose syndrome, and GLUT-1 deficiency. Using a formula-only ketogenic diet for infants and gastrostomy-tube fed children may lead to better compliance and possibly even improved efficacy.*
- The diet works well for children with focal seizures, but may be less likely to lead to an immediate seizure-free result.*
- In general, the diet can always be considered as long as there are no clear metabolic or mitochondrial reasons not to use it.*
*For more on this, please visit – http://www.epilepsy.com/learn/treating-seizures-and-epilepsy/dietary-therapies/ketogenic-diet
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