Disease

GLUT1 deficiency syndrome-11, 2

Gene

SLC2A1

Inheritance AR and AD
Current Treatments ketogenic diet and carnitine, avoid barbiturates, methyxanthine(caffeine), valproic acid
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test comparison of blood glucose concentration with CSF glucose concentration obtained after 4 hr fast1
Disease Frequency (per 100,000) 1.23
Genes Included in Disease Frequency SLC2A1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=glut1&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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