10/07/2025
Today is GLUT1 INTERNATIONAL AWARENESS DAY (Glucose transporter type 1 deficiency syndrome).
It is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier and other tissue barriers.
The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. However, the symptoms and severity of Glut1DS can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy.
Additional symptoms that can occur include abnormal eye-head movements, body movement disorders, developmental delays and varying degrees of cognitive impairment, slurred speech and language abnormalities. Glut1DS is caused by changes (disease-causing variants) in the SLC2A1 gene and is inherited in an autosomal dominant pattern. Rarely, the condition also may be inherited in an autosomal recessive pattern. Glut1DS does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but is successfully treated with the ketogenic diet.
For more information or support please visit www.epilepsycentre.org.au or you can call 1300 850 081 or email enquiries@epilepsycentre.org.au. We are here for you.
