Living with GLUT1 deficiency syndrome
A nervous system condition that often causes seizures starting in the first months of life, along with developmental and movement problems.
Understanding GLUT1 deficiency syndrome
About 90 percent of people have the common form, with frequent seizures starting in the first months of life. In newborns, the first sign may be quick, irregular eye movements. Brain and skull growth is often slow, which can lead to a small head. About 10 percent have a non-epileptic form, which is usually less severe and has no seizures but can still involve developmental delay and movement problems.
Signs & symptoms
Symptoms vary from person to person. GARD describes these:
- Seizures starting in the first months of life
- Quick, irregular eye movements in newborns
- Slow head growth (microcephaly)
- Developmental delay or intellectual disability
- Muscle stiffness, poor coordination, and speech difficulties
- Confusion, headaches, or muscle twitches during fasting
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 seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Epilepsy Foundation
- 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 doesn't describe a cause for this condition in the information provided.
Also known as: glucose transporter type 1 deficiency syndrome; glut1 ds; glut1ds
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with GLUT1 deficiency syndrome.
Explore research for GLUT1 deficiency syndrome
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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