Home Page
What is GLUT1 deficiency?
GLUT1 deficiency is a rare genetic disorder that prevents the brain from getting enough glucose. Glucose is the main type of sugar in your blood, and your body’s main source of energy.
Since GLUT1 deficiency syndrome affects the brain, people with this rare disorder often show neurological symptoms like seizures or epilepsy, small head size (microcephaly), and developmental delay or intellectual disability. GLUT1 deficiency may also cause lethargy, movement disorders, and unusual tensing of the muscles (spasticity).
What causes GLUT1 deficiency?
GLUT1 deficiency is caused by a change (mutation) in the SLC2A1 gene, which provides the “instructions” for the protein that moves glucose into the brain to use as fuel. This mutation can prevent the brain from developing and growing as it should.
Most individuals with GLUT1 deficiency syndrome are the only person in their family with this condition due to a new, spontaneous genetic change. Less commonly, disease-causing (pathogenic) variants in the SLC2A1 gene are inherited from one parent and even more rarely from both parents. Parents may have only mild or no symptoms.
What are the early signs of GLUT1 deficiency syndrome in babies?
The early signs of GLUT1 deficiency syndrome in babies include unusual eye or head movements, treatment-resistant seizures, small head size, and developmental delay. Parents and caregivers may also notice uncontrolled muscle movements, differences in the way a child walks, and delayed or unusual speech-language development. Symptoms are often worse in the morning and can improve after eating.
How is GLUT1 deficiency diagnosed?
GLUT1 deficiency syndrome is diagnosed based on clinical symptoms and confirmed by genetic testing or lumbar puncture—a procedure where a needle is inserted in the lower back to extract cerebrospinal fluid (CSF). In GLUT1 deficiency, the cerebrospinal fluid contains low glucose compared to the blood glucose level.
How is GLUT1 deficiency treated?
The recommended treatment for GLUT1 deficiency is a medically supervised ketogenic diet. A medical ketogenic diet contains high fat, moderate protein, and low carbohydrates, which enables the brain to use ketones as fuel rather than glucose. The ketogenic diet has been shown to improve many symptoms of GLUT1 deficiency including seizures, cognition, and movement disorders. Early diagnosis and treatment of GLUT1 deficiency is critical to preserve brain growth and development.
GLUT1 Deficiency Syndrome Care at Gillette Children's
Gillette Children’s is the only healthcare organization in Minnesota certified as a Collaborative Care Center by the GLUT1 Deficiency Foundation. This designation was awarded to Gillette Children's thanks to our comprehensive, multidisciplinary approach to care, a commitment to centering patients and families, and a shared interest in collaboration and mutual learning across the GLUT1 Deficiency community. Our ketogenic diet clinic is dedicated to supporting young patients with metabolic disorders who can benefit from this specialized diet.
Staffed by the foremost experts in pediatric neurology, complex care, and dietetics, along with support from our specialized pharmacy team and a dedicated nurse care coordinator, the ketogenic diet clinic at Gillette Children's offers assessment, implementation, and follow-up services for a medically supervised ketogenic diet. From brief hospitalization to help initiate the diet to consultations with registered dietitians, Gillette Children’s provides resources and ongoing support to children who have GLUT1 deficiency syndrome and their families.
