Glut 1 deficiency is a rare genetic condition.
My experience living with this genetic condition is that affects brain metabolism.
It is caused by a mutation in the SLC2A1 gene. Which regulates the glucose transporter protein type 1 (Glut 1 is the principal transporter of glucose the primary source of energy, across the blood- brain barrier.)
More than 100 diffent types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients.
Impaired glucose transporter associated with Glut Deficiency creates a enegy crises in the brain and offen Results in seizures, speech and movement disorders and developmental delays. Not all patients experience all symptoms especially with milder phenotypes.
Symptoms vary and evolve over time. the standard of care treatment is a Ketogenic diet. this low carbohydrate, moderate protein, high fat diet causes the body to produce ketones, which are used as the energy source by the brain and other tissues when glucose is limited.
The diet helps most patients with most symptoms, even in adulthood. A Ketogenic diet also helps preserve brain growth and development, so early diagnosis and treatment is critical.
To put the it in simpler terms think of your body as a car and you accidentally put diesel in instead of petrol.
Your body wouldn’t be able to work properly eating normal foods. As someone with Glut 1, my body can only work properly on a diet of fat and protein to learn more about glut I click here
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