Breakthrough: More Secrets of Glut1 DS Revealed

As if there wasn’t enough about Glut1 deficiency to be frustrated with, scientists are now saying there are more symptoms to the condition than they were originally aware of.

In this paper published by Dr. Joerg Klepper of Children’s Hospital in Aschaffenburg, Germany, children and adults with Glut1 deficiency may experience sudden attacks that are unique from the seizures or movement difficulties they experience on a more regular basis.

As is the case with most things Glut1, these sudden attacks have been linked to “cerebral energy deficits” – meaning your brain isn’t getting the power it needs to function properly. That’s what’s messing up other parts of the body. Physical exercise as well as sleep deprivation, both of which affect how much energy you have, can contribute to more frequent attacks.

Poor compliance with a ketogenic diet can also contribute.

In the study, home video and questionnaires were used to evaluate 56 people with diagnosed Glut1 deficiency. Of those 56, the number who experienced attacks involving motor function, muscle tone, speech, or alertness were as follows:

  • Motor function: 35 (62.5%)
  • Muscle tone: 31 (55.3%)
  • Speech: 17 (30.3%)
  • Alertness: 16 (28.5%)

It is not yet known exactly how these sudden attacks originate in the brain, but one hypothesis is that the basal ganglia is involved. The basal ganglia is the part of your brain responsible for coordinating movements.

Further research will depend on the Glut1 Deficiency Registry, which encourages all those with Glut1 DS to sign up. There are currently less than 500 confirmed cases throughout the world.

James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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