Talk to your doctor about Glut1 Deficiency Syndrome

Many neurologic conditions share the symptoms of Glucose Transporter Type 1 deficiency syndrome (Glut1 DS), a rare genetic disorder. Glut1 DS symptoms are:

  •  Seizures

Seizures may appear differently in each person, and not all people affected by Glut1 DS have seizures. Absence seizures, in which a person appears to lose awareness or stares into space (and does not respond), are common in Glut1 DS.

  • Developmental delay

Children affected by Glut1 DS may experience motor (movement) and developmental delay including learning disabilities and language difficulties.

  • Movement disorders

People with Glut1 DS may experience abnormal limb movements such as twitching, flailing, writhing and poor balance. These can be ongoing or occasional. Problems walking or running may be a sign of a movement disorder. Additionally, abnormal, involuntary eye movements that cannot be controlled have been found in people with Glut1 DS.

A genetic test can help identify Glut1 DS as the underlying cause of neurologic problems.

Q: How does Glut1 DS affect someone?

A: In people with Glut1 DS, glucose is not adequately transported into the brain. Because glucose is the primary source of energy for the brain, the brain has inadequate energy in people affected by Glut1 DS.

Q: Who gets Glut1 DS?

A: About 10% of patients affected by Glut1 DS inherit it from one of their parents. That means about 90% of people affected by Glut1 DS are the first ones in their family to have Glut1 DS from a change in the Glut1 gene (called a mutation).

Q: Why get tested?

A: Glut1 DS may be underdiag- nosed. It is believed that 1% of all people with generalized epilepsy and 10% of children with early- onset absence epilepsy (age 0-4) may have Glut1 DS.

Frequently Asked Questions about Genetic Testing

Q: What is genetic testing?

A: Genetic testing takes place when healthcare professionals look at DNA to find changes or alterations in genes that can cause disease. In this case, healthcare professionals will look at a blood sample to analyze the Glut1 DS gene.

Q: Will results be kept confidential?

A: Yes, you or your child’s test results will be kept confidential. Only you and your doctor will know the results of your genetic testing. Your child’s genetic testing results will not be shared with your insurance company or Ultragenyx. Ultragenyx will receive information regarding the overall testing results for the program, but will not be given information that could connect the result to your child.

Q: What will the results show?

A: The results will identify any changes (called mutations) in the gene that causes Glut1 DS. If your child has a gene mutation in the Glut1 gene, a genetic counselor will be available to help answer your questions on the phone.

Q: Will the genetic test cost anything to me or my insurance company?

A: No. Ultragenyx Pharmaceutical Inc. is sponsoring genetic testing for Glut1 DS at no cost to you or your insurance company, whether the test shows a Glut1 gene mutation or not.

For more information on Glut1 DS, please visit
Your doctor can order genetic tests by contacting

16 thoughts on “Your Questions Answered on Glut1 Deficiency Syndrome”

  1. My name is Kirsten I am 49yrs old. My 30 yr old daughter has glut1 transporter deficiency and my youngest grandson also has it. I took a blood test today for the same thing. My question is when should I get the results, can you help?.

  2. Avijit Mondal says:

    My son is just five years old,but his weight is 11 kg.He has no problem with his study or other anything.His height is also not up to the mark.He has full of energy and do his work with no problem.I want to ask the doctors is this any kind of deficiency problem?what will I do?

  3. Superb, what a weblog it is! This website presents useful
    information to us, keep it up.

  4. Jonah says:

    Howdy! Someone in my Myspace group shared this website with us
    so I came to take a look. I’m definitely enjoying the information. I’m bookmarking and will be tweeting thus to my followers!
    Terrific blog and great design.

  5. Jina says:

    With hwvin so mujch content do you ever ruun into any problems of plagorism or copyright
    infringement? My website has a lot oof exclusive content I’ve either created myself or outsourced but
    it looks like a lot of itt is popping it up all over the web without my permission. Do youu know any solutions to
    help sfop content from being stolen? I’d genuinely appreciate it.

  6. Mammie says:

    I was pretty pleased to discover this page.
    I need to to thank you for your timee just for this fantasic read!!
    Idefinjitely liked every bit of it and i also ave you book-marked
    to look at new stuff on your web site.

  7. Latoya says:

    Asking questions are in fwct nice thing if yyou are not understanding anything completely,
    however this piece of writing presents niuce understanding yet.

  8. What i don’t realize iis in truth how you’re noow not actually much more neatly-favored than you may be
    right now. You’re so intelligent. You realize thus considerably in terms of
    this matter, made me for my part believe itt from a lot of numerous angles.
    Its likke women and men don’t ssem to be involved unless it is something to do with Woman gaga!
    Your own stuffs excellent. All the time care for it up!

  9. Nolan says:

    Highly energetic post, I liked that a lot. Will there be a part 2?

  10. Howdy! I know this is kind off off topic but I was wondering which blog platform aare you
    using for this site? I’m getting tired of WordPress because I’ve had issues with hackers and
    I’m looking at options for another platform. I would be great if
    you could popint me in the direction of a good platform.

  11. Dating apps expose lovebirds to con artists and hackers

    Tinder and Grindr energy early, Lapowsky mentioned, “But now may perhaps have Bumble, which you have Hinge, You have all these apps that encourage you to connect with people that you have friends in common with. That helped change dating],

    But with greater convenience comes increased exposure to hacks and scams.

    Data safeguarding and privacy should concern all users of dating apps, She wanted to say. Some of these kinds of businesses just aren’t as sophisticated as larger social media firms, “so they can fail to protect user data adequately, The other risk is that hackers know there is personal and sensitive home elevators these sites, that makes can make dating apps attractive targets.

    con artists usually also run amok on dating apps. for 2018, Romance scams were the most costly types of fraud reported to the FTC, Resulting in approx,roughly speaking $143 million in losses.

    “For as long as people have been falling in love online they’ve been getting scammed into giving money to people, Lapowsky menti one d. “is actually the way it will work: Somebody sets up a fake account and they start conntacting you, they convince you to send some private photos, And then unexpectedly they try to blackmail you for money,

    Lapowsky described another scenario exactly where the fraudster might pluck at the target’s heartstrings and build a rapport, Then claim to be in an auto accident or have a family emergency and require money. ” Has happened millions of years before apps came along, But possibly because books people are on the apps, The FTC is saying this is a far bigger problem that it was yourself,

    Lapowsky shared a few useful tips for protecting your privacy and safety with internet dating apps:

    Limit your data you share on all social media sites, just dating apps.

    Only use sound sites.

    Use a different photo on your dating apps than you use on professional networks like LinkedIn.

    ensure that you have your first date in a public space.

    If you connect your dating app to larger social channels like Facebook, remember to limit the data you share between accounts. Fourty three states and Puerto Rico filed a complaint Friday alleging the companies coordinated to inflate prices and reduce competition on more than 100 generic prescription drugs. Connecticut legitimate General William Tong, hot latin women Who was appeared in Sunday’s “60 min’s” guide, joins “CBS today” To discuss why he is leading the states’ coalition against the generic drug companies.

  12. Rick says:

    If you desire to get much from this ppst then you have to apply
    such techniques to your won blog.

  13. Leora says:

    We are a grop of volunteers and opening a new scheme inn
    our community. Your websie provided us with valuable information to work on. You have done an ipressive job and oour
    entire cmmunity will be grateful to you.

  14. Hello it’s me, I am also vsiting this web page regularly, this web site is genuinely fastidious and the visitors
    are in fact sharing pleasant thoughts.

  15. Bianca says:

    Hi there, I log on to your new stuff on a regular basis.
    Your story-telling style is witty, keep up the good work!

  16. Stephaine says:

    Thanks on your marvelous posting! I redally enjoyed reading it,
    yoou can be a great author.I wiol always bookmark your blog and may come back later in life.

    I want to encourage one to continue your grewat job, have
    a nice day!

Leave a Reply

Your email address will not be published.