Living with Encephalopathy due to GLUT1 deficiency
An inherited nervous system condition starting in infancy with seizures, unusual eye movements, a small head, and delays in development.
Understanding Encephalopathy due to GLUT1 deficiency
Symptoms usually start within the first few months of life and may include repeated seizures and involuntary eye movements. Other signs include a small head that develops after birth, developmental delay, intellectual disability, stiff muscles, poor coordination (ataxia), and trouble speaking. A non-epileptic form has the same symptoms without seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delays in development
- Intellectual disability
- Poor coordination (ataxia)
- Stiff muscles (spasticity)
- Trouble speaking (dysarthria)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC2A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Glut1 Deficiency Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Glut1 Deficiency Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Glut1 Deficiency Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SLC2A1 gene cause this condition. It can be autosomal dominant (one changed copy is enough) or autosomal recessive.
Also known as: classic glucose transporter type 1 deficiency syndrome; classic glut1 deficiency syndrome; classic glut1-ds; de vivo disease; glucose transport defect, blood-brain barrier; glucose transporter protein syndrome
Patient organizations
- Glut1 Deficiency FoundationEncephalopathy due to GLUT1 deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Encephalopathy due to GLUT1 deficiency.
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