Glut1 Deficiency Foundation

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Glut1 Deficiency is a rare genetic condition that impairs brain metabolism. It is caused by mutations or variants in the SLC2A1 gene, which encodes the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose and also moves other important sugars across the blood-brain barrier. Impaired glucose transport associated with Glut1 Deficiency creates a metabolic crisis in the brain and often results in a range of neurological symptoms such as seizures, speech and movement disorders, and developmental delays.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Body Systems
Metabolic
Muscular / Skeletal
Nervous / Sensory
Organs
Brain
Genes
SLC2A1
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
Dysfunctional vesicle trafficking
Glycogen pathway dysregulation
Glycogen storage disease
Glycosylation disorder
Inborn errors of metabolism
Pathogenic mutation
Protein misfolding
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Incidence
1001-10000
Prevalence
10000+
Populations and/or ancestry with higher prevalence
there are higher than average incidence rates in areas where there are clinical experts who know about the disease and are looking for the diagnosis (Texas, Germany, Netherlands)
Symptoms / Phenotypes
cognitive decline
developmental delay
headaches / migraines
movement disorders / ataxia / tremor
seizures / epilepsy
speech problems / apraxia
Biomarkers
Diagnostic
· low CSF glucose with normal blood glucose; characteristic glucose uptake patterns on PET scan
Monitoring
Other
Prognostic
· CSF glucose absolute level as well as the ratio to blood; type of variant
Therapeutic
· blood ketone levels (ketogenic diet)
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· ketogenic diets; MCT oils
Drugs used off-label
· acetazolamide, baclofen, metformin, sinemet, triheptanoin
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Plasma
Cell Lines, location
COMBINEDBrain
Coriell Institute
Sampled
Cell Lines, share
Yes
Disease Model
Mouse
Organoids
Pig
Disease Model, location
Columbia University
University of Chicago
University of Texas Southwestern Medical Center (UTSW)
Disease Model, share
No
Clinical Trial Role
Data sharing
Focus group
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study protocol design, review
Biobank
COMBINEDBrain
Coriell Institute
Center of Excellence
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Electronic health records/electronic medical records
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Clinicians
Platform, Registry
REDCap
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Matrix
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
Director of Operations/Director of Development
Executive Director
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe