Glut1 Deficiency Syndrome 1 Autosomal Recessive C3149117
An inherited form of Glut1 deficiency where the brain cannot receive adequate glucose for energy. Symptoms include seizures, intellectual disability, and movement disorders. Ketogenic diet remains the main treatment approach.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dystonia
(neurologic)Microcephaly
(neurologic)Cognitive impairment
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Strict Ketogenic Diet Implementation
Implementation of a medically supervised ketogenic diet to bypass the defective glucose transporter and provide alternative cerebral energy substrate through ketone body metabolism.
Seizure Management Protocol
Customized anticonvulsant therapy selected based on seizure type and avoiding medications that may interfere with residual glucose transport function.
Additional treatment options
Diagnostic Lumbar Puncture
Cerebrospinal fluid analysis to confirm diagnosis by demonstrating low glucose concentration in CSF relative to blood glucose levels.
procedureDevelopmental Therapy Program
Early intervention physical and occupational therapy services to maximize motor development and address hypotonia commonly seen in this autosomal recessive form.
physical_therapyNutritional Supplement Support
Adjunctive supplementation including omega-3 fatty acids, coenzyme Q10, and other mitochondrial support nutrients to optimize neuronal function alongside primary treatments.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Glut1 Deficiency Syndrome 1 Autosomal Recessive C3149117?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy