Overview
Classic glucose transporter type 1 deficiency syndrome, also known as Glut1 DS, De Vivo disease, or GLUT1 deficiency, is a rare inherited metabolic disorder. It is caused by a problem with a protein called GLUT1, which normally carries glucose (sugar) from the blood into the brain. Without enough GLUT1 working properly, the brain does not get enough fuel to function well. This leads to a range of neurological problems that usually begin in infancy or early childhood. The most common symptoms include seizures that start in the first year of life, delays in reaching developmental milestones like sitting and walking, difficulty with movement and coordination, and intellectual disability ranging from mild to severe. Some children also have a movement disorder that causes involuntary muscle stiffness or writhing movements, especially when they are hungry or tired. The good news is that a special high-fat, low-carbohydrate diet called the ketogenic diet is an effective treatment for many people with this condition. This diet gives the brain an alternative fuel source called ketones, which do not need GLUT1 to enter the brain. When started early, the ketogenic diet can significantly reduce seizures and improve development. While there is no cure, many people with GLUT1 deficiency can lead meaningful lives with proper management and support.
Also known as:
Key symptoms:
Seizures starting in infancy, often resistant to standard seizure medicationsDevelopmental delays, including delayed speech and languageIntellectual disability, ranging from mild to moderateDifficulty with coordination and balance (ataxia)Involuntary muscle movements or stiffness (movement disorder)Abnormal eye movements, such as rapid back-and-forth eye movements (opsoclonus)Symptoms that get worse when fasting or hungryFatigue and low energy, especially before mealsSpasticity (muscle stiffness)Behavioral problems or attention difficultiesHeadachesConfusion or altered alertness, especially when hungry
Clinical phenotype terms (33)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsOregon Health and Science University — PHASE2
IRCCS National Neurological Institute "C. Mondino" Foundation
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Classic glucose transporter type 1 deficiency syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Classic glucose transporter type 1 deficiency syndrome.
Community
No community posts yet. Be the first to share your experience with Classic glucose transporter type 1 deficiency syndrome.
Start the conversation →Latest news about Classic glucose transporter type 1 deficiency syndrome
No recent news articles for Classic glucose transporter type 1 deficiency syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is the ketogenic diet the right treatment for my child right now, and how soon should we start?,Which anti-seizure medications should we avoid because of GLUT1 deficiency?,How will we know if the ketogenic diet is working, and how long should we try it before deciding if it is effective?,What developmental therapies do you recommend, and how often should my child receive them?,Are there any clinical trials or newer treatments we should consider?,What should I do if my child has a prolonged seizure — do we need an emergency medication at home?,As my child grows into adulthood, how will the management of this condition change?
Common questions about Classic glucose transporter type 1 deficiency syndrome
What is Classic glucose transporter type 1 deficiency syndrome?
Classic glucose transporter type 1 deficiency syndrome, also known as Glut1 DS, De Vivo disease, or GLUT1 deficiency, is a rare inherited metabolic disorder. It is caused by a problem with a protein called GLUT1, which normally carries glucose (sugar) from the blood into the brain. Without enough GLUT1 working properly, the brain does not get enough fuel to function well. This leads to a range of neurological problems that usually begin in infancy or early childhood. The most common symptoms include seizures that start in the first year of life, delays in reaching developmental milestones lik
How is Classic glucose transporter type 1 deficiency syndrome inherited?
Classic glucose transporter type 1 deficiency syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Classic glucose transporter type 1 deficiency syndrome typically begin?
Typical onset of Classic glucose transporter type 1 deficiency syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Classic glucose transporter type 1 deficiency syndrome?
Yes — 1 recruiting clinical trial is currently listed for Classic glucose transporter type 1 deficiency syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Classic glucose transporter type 1 deficiency syndrome?
5 specialists and care centers treating Classic glucose transporter type 1 deficiency syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.