Meet Maureen, her son Oliver and family to learn more about what it’s like to live with Glut1 DS.

Like any parent, Maureen hoped for a happy and healthy child when she was pregnant with her son, Oliver. When Oliver had his first seizure as a child and medical tests couldn’t find the answer, Maureen’s hopes came crashing down. For the first year, Oliver had 20-25 seizures a day. At age five, he was officially diagnosed with Glut1 deficiency syndrome. Maureen works with him to find alternative ways to control his seizures, and he plays on the JV baseball team at school. Oliver doesn’t give up when it comes to limitations, so they “aren’t as big of a deal” as Maureen once feared.

Glut1 Deficiency Syndrome (Glut1 DS)

What is it?

Glut 1 DS is rare, genetic disorder that prevents enough glucose (sugar) from getting to the brain, leaving the brain starving for energy.

What causes it?

People with Glut 1 DS have a mutation in a gene that controls the Glut1 transporter, which is the “vehicle” in the body that moves sugar into the brain. The genetic mutation causes the Glut 1 transporter to work improperly.

What are some of the common symptoms?

  • Seizures
  • Delay in speaking
  • Movement disorders
  • Learning difficulties

How many people have it?

Between 3,000 and 7,000 people in the U.S. have Glut1 DS.

Common names for Glut1 DS1

  • De Vivo disease
  • Encephalopathy due to GLUT1 deficiency
  • G1D
  • Glucose transport defect, blood-brain barrier
  • Glucose transporter protein syndrome
  • Glucose transporter type 1 deficiency syndrome

1 GLUT1 deficiency syndrome. National Institutes of Health: Genetics Home Reference Website. Published March 2014. Updated March 19, 2019. Accessed March 29, 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact