Could it be Glut1?

Seizures that can’t be seen on an EEG. Fasting and exercise intolerance. Fatigue. Leg pain. Irritability. Weakness. Balance problems. Funny eye movements. Tremors. Slowness of thought.

These are part of a constellation of symptoms shared by most folks who suffer from the rare disorder called Glut1.

Many parents are not familiar with the disorder and therefore don’t know how to help their child when these symptoms appear. Worst of all, because some physicians can work their entire life without ever meeting a patient with Glut1, failure to diagnose the condition may be possible.

Glut1—short for Glucose Transporter Type 1 Deficiency Syndrome—is a genetic disorder impairing how glucose is transported into the brain. The result is a brain that is left constantly starving the energy it needs to grow and function properly. This is why, for most people with Glut1, fasting is accompanied by a worsening of symptoms.

Because it is so rare, seizures, cognitive delays, and balance problems present in Glut1 patients can easily be attributed to other better-known conditions, such as epilepsy.

In fact, it is possible that one percent of all people diagnosed with generalized epilepsy and 10 percent of children with absence epilepsy may actually have Glut1.

Additionally, misdiagnosis can occur because symptoms for Glut1 can be non-specific, which means they can vary depending on the particular mutation.

For young children, who are developing their brain during the first five years of their lives, undiagnosed Glut1 can have severe developmental consequences. This five-year brain development window is a crucial period where treatment could make a big difference in the prognosis of a child with Glut1. Providing the brain with the energy it needs when it’s growing and developing is key to allow for the best possible outcome. However, the only way to determine if a person has Glut1 is to perform a genetic test—which finds the mutation in about 70 percent of people with Glut1—or a spinal tap.

If a child has funny spells, seizures, abnormal eye movement, developmental delay, fatigue, is very sensitive to sound, light and sensory stimulation, is irritable, and not meeting his/her milestones, that should be enough to request a Glut1 test to rule out a diagnosis. Getting an early diagnosis will help get the treatment in place to help the child grow to his/her full potential.

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— Abigail Collins, MD, Assistant Professor of Pediatrics and Neurology at the University of Colorado School of Medicine

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