GLUT 1 condition

[plrae]

Has anyone heard of or know anything about GLUT 1 condition. (think it is epilepsy related)?

Glut1 is the main protein that transports glucose across cell membranes and so is key in blood sugar regulation. A deficiency can lead to seizures.

This link might be useful ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome

Thankyou

Hi

Yes my son 7 was diagnosed with glut1 almost 2 years ago this June. Anything I can help you with?

Stefanie

DD has been called for a lumber puncture to test for GLUT 1. If she has it, is it treatable, if so how is it treated? Thanks

Hi plrae

Our dd is under investigation for Glut 1. I think they are finding more and more children with this disorder. DD had her LP last year but the results came back negative although she did have raised blood sugar despite fasting for over 10 hours
However she still has some of the symptoms (paroxysmal movement disorder, speech problems, non epileptic based absences mainly). The next step for us i think is a gene test. The lumber puncture will diagnose 90% of cases. The only current treatment is the ketogenic diet but its really effective in treating the disorder.

I have attached a link below but i dont think its specific
to glut 1, as the diet is helpful in lots of disease's, illness, syndromes etc.. I have no personal experiance of this diet. But i think in Glut 1 kids the diet replaces glucose as the main fuel source to the brain with fat.
I wish you the very best with everything and i hope you get to the bottom of what wrong with your dd soon. I know waiting to find out whats wrong with a dc can be hell.

site.matthewsfriends.org

Hi everyone,
My name is Glenna and I'm the parent of a Glut1 child (Macie, 14). We have started a parent organization for Glut1 Deficiency. You can find out more about Glut1 Deficiency and our Foundation at our website:
www.g1dfoundation.org
Please let me know if you have any questions.

Best wishes!

Hi I was diagnosed with Glut-1 ds and exercise induced dyskinesia 3 years ago at the age of 42! My daughter at the age of 9 has just been diagnosed with this last week so I'm asking if there is anyone else out there and how it is all going?