Glucose Transporter Type 1 Deficiency Syndrome

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What is GLUT1 deficiency syndrome?

Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leaving it starving for the energy it needs to grow and function.

Glut1 Deficiency is caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients.

The impaired glucose transport associated with Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another. The hallmark symptoms of Glut1 Deficiency are seizures (90% of patients), a complex movement disorder, developmental delay, and speech/language disorders. There is a great deal of variance across a wide spectrum in both the combination and severity of symptoms from one patient to another, and symptoms may evolve over time.

Some of the other suggestive symptoms seen in many Glut1 Deficiency patients:
-paroxysmal exercise-induced dystonia/dyskinesia (PED)
-early onset absence seizures before the age of 3
-treatment resistant seizures/epilepsy at any age
-fluctuation of symptoms with hunger, fatigue, heat, illness, anxiety, excitement
-symptoms worse just after waking in the morning
-symptom improvement after eating
-opsoclonus
-paroxysmal neurological symptoms
(seizures, movement disturbances, headaches, energy levels, confusion, mood)

There is currently no cure for Glut1 Deficiency. The recommended standard treatment is a ketogenic diet, which helps improve most symptoms for most patients by giving the brain an alternate source of energy and helps optimize brain growth and development.

There are currently a few hundred patients diagnosed WORLDWIDE, but experts believe there are thousands more yet to be discovered.