Overview
Glucose transport disorder, also known as Glucose Transporter Type 1 Deficiency Syndrome (GLUT1 Deficiency Syndrome or GLUT1-DS), is a rare inherited condition where the brain cannot get enough glucose (sugar) to function properly. Glucose is the brain's main fuel source, and a special protein called GLUT1 acts like a doorway to carry glucose from the blood into the brain. When this protein does not work correctly, the brain is starved of energy, especially during times of fasting or illness. The condition affects people in different ways, but the most common symptoms include seizures that are hard to control, delays in development, problems with movement and coordination, and difficulties with thinking and learning. Symptoms often begin in infancy or early childhood. Some people have a milder form with movement problems but fewer or no seizures. The main treatment is a special high-fat, low-carbohydrate diet called the ketogenic diet. This diet teaches the body to use fat-based molecules called ketones as an alternative fuel for the brain, which can dramatically reduce seizures and improve development in many patients. Early diagnosis and starting the diet as soon as possible are very important for the best outcomes. There is currently no cure, but dietary therapy can significantly improve quality of life.
Key symptoms:
Seizures that are difficult to control with standard medicationsDevelopmental delays (slower to reach milestones like talking or walking)Intellectual disability or learning difficultiesProblems with coordination and balance (ataxia)Involuntary eye movements (opsoclonus or nystagmus)Muscle stiffness or abnormal muscle toneEpisodes of confusion or altered alertnessHeadachesFatigue and low energy, especially before meals or when fastingSpeech and language difficultiesMovement problems that come and go (paroxysmal dyskinesia)Slowed head growth (acquired microcephaly in some cases)
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
10 eventsMedtronic Diabetes — NA
Medtronic Diabetes — NA
Helsinki University Central Hospital — NA
University of Alabama at Birmingham — NA
Steno Diabetes Center Copenhagen — PHASE4
Tandem Diabetes Care, Inc.
Stanford University — NA
Weill Medical College of Cornell University — NA
Centre Hospitalier Sud Francilien — NA
University of Alabama at Birmingham — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Glucose transport disorder.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Glucose transport disorder at this time.
New trials open frequently. Follow this disease to get notified.
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 Glucose transport disorder.
Community
No community posts yet. Be the first to share your experience with Glucose transport disorder.
Start the conversation →Latest news about Glucose transport disorder
Disease timeline:
New recruiting trial: Metabolic Syndrome in Diabetic Smokers Using Cigarettes & Combustion-Free Nicotine Delivery Systems
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Intramyocellular Fatty Acid Trafficking in Insulin Resistance States - Effects of Intestinal Delivery of Lipids
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Primary Care Pragmatic, Real World Experience for Automated Insulin Delivery
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Examining Digital Health Care Delivery Models Through Medicaid Collaborative
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Occupational Therapy and Registered Dietitian Services to Reduce Fall Risk Among Home Delivered Meal Clients
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Brain Blood Flow and Sugar Transport in Alzheimer's Disease With and Without Diabetes - A Pilot Imaging Study
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Vey Low-Energy Ketogenic Therapy in Adults With Type 1 Diabetes and Obesity on Intensive Insulin Therapy Using Advanded Hybrid Closed Loop System
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: An Investigational Scan (Me-4FDG PET/CT) for the Detection of Sodium-Glucose Transport for Early Diagnosis of Lung Cancer
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Hybrid Closed-Loop for Perioperative Glycemic Control in T2DM With Parenteral Nutrition
A new clinical trial is recruiting patients for Glucose transport disorder
New recruiting trial: Brain Blood Flow and Lactate in Non-obese and Obese Subjects
A new clinical trial is recruiting patients for Glucose transport disorder
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 they might make things worse?,How often should we check CSF glucose and blood glucose levels?,What nutritional supplements does my child need while on the ketogenic diet?,What should I do if my child gets sick and cannot eat — how do I manage fasting safely?,Are there any clinical trials or new treatments we should consider?,What educational and developmental support services should we be accessing?
Common questions about Glucose transport disorder
What is Glucose transport disorder?
Glucose transport disorder, also known as Glucose Transporter Type 1 Deficiency Syndrome (GLUT1 Deficiency Syndrome or GLUT1-DS), is a rare inherited condition where the brain cannot get enough glucose (sugar) to function properly. Glucose is the brain's main fuel source, and a special protein called GLUT1 acts like a doorway to carry glucose from the blood into the brain. When this protein does not work correctly, the brain is starved of energy, especially during times of fasting or illness. The condition affects people in different ways, but the most common symptoms include seizures that ar
How is Glucose transport disorder inherited?
Glucose transport disorder follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Glucose transport disorder typically begin?
Typical onset of Glucose transport disorder is infantile. Age of onset can vary across affected individuals.
Which specialists treat Glucose transport disorder?
25 specialists and care centers treating Glucose transport disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.