Glut1 Deficiency Foundation

Cycle 1

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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 04/30/2026

Clinical

Disease Class

Epilepsy and seizure disorders

Genetic diseases

Inherited metabolic disorder

Intellectual disability and developmental syndromes

Muscular and neuromuscular diseases

Neurological diseases

Body Systems

Metabolic

Muscular / Skeletal

Nervous / Sensory

Organs

Brain

Eyes

Muscles

Nerves

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

SLC2A1

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Newborn Screening

Disease Mechanism(s)

Abnormal protein degradation

Carbohydrate metabolism defect

Glucose transporter defect

Glycogen-related defects

Glycosylation defects

Transport defect

Age of Onset

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Early childhood (age 1+-5)

Middle childhood (6-11)

Life Expectancy

Adulthood (age 18-64)

Elderly (age 65+)

Affected Sex(es)

Female

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

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

Complementary and Alternative treatments

· ketogenic diets; MCT oils

Off-Label Drug Use

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

Gene therapy

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

· 1 - diazoxide; others in preclinical stages

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Funding

Outcome measures development

Recruitment and outreach to patients

Sample provision

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

LCLs

Plasma

Cell Lines, Institution

COMBINEDBrain

Coriell Institute

Max Delbrück Center for Molecular Medicine

Van Andel Institute

Cell Lines, Involvement

Funded

Own

Cell Lines, share

All our cell lines are freely available

Disease Model

Mouse

Disease Model, Involvement

Consulted

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Not applicable

Clinical Trial Role

Data sharing

Focus group

Funding

Other consulting

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Study protocol design, review

Travel coordination

Biobank, Institution

COMBINEDBrain

Coriell Institute

Van Andel Institute

Biobank, Involvement

Funded

Own

Center of Excellence, Institution

Aschaffenburg Children's Hospital

Childrens Healthcare of Atlanta

Children’s Hospital of Philadelphia (CHOP)

Colorado Children's

Columbia University

Cook Children’s Medical Center

Epilepsy Centre of Norway

Gillette Children's Hospital

HUCA Spain

Hospital for Sick Children

INTA Chile

Johns Hopkins Hospital

Lurie Childrens Hospital of Chicago

Nationwide Childrens Hospital

Oregon Health and Sciences University (OHSU)

Phoenix Children's Hospital

Radboud University Medical Center

Royal Manchester Children's Hospital

Sant Joan de Déu Barcelona Hospital

St. Louis Children's Hospital

Texas Childrens Hospital

University of Chicago

University of Wisconsin-Madison

Washington University

Weill Cornell Medicine

Yale University

Center of Excellence, Involvement

Endorsed/Certified/Accredited

Registry

No, we do not have a registry and have no plans to create one

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

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

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Asia

Europe

Oceania

Europe