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Childhood Onset Glut1 Deficiency Syndrome 2

Disease Details

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Description: Childhood-onset GLUT1 deficiency syndrome 2 is a rare genetic disorder where a defect in the SLC2A1 gene impairs the transportation of glucose to the brain, leading to developmental delays, movement disorders, and epilepsy.
Type: Childhood-onset Glut1 deficiency syndrome 2 is typically transmitted in an autosomal dominant manner.
Signs And Symptoms: Childhood-onset Glut1 Deficiency Syndrome 2 (Glut1DS2) is characterized by various signs and symptoms, which can include:

1. Developmental delay
2. Intellectual disability
3. Movement disorders (such as dystonia, ataxia, spasticity)
4. Epileptic seizures
5. Microcephaly (abnormally small head size)

These symptoms arise due to a deficiency in Glucose Transporter Type 1 (Glut1), which impairs glucose transport across the blood-brain barrier, leading to insufficient energy supply to the brain.
Prognosis: Childhood-onset GLUT1 deficiency syndrome 2, a neurological disorder caused by impaired glucose transport into the brain, typically presents with early-onset absence epilepsy and various movement disorders. The prognosis can vary:

- **Prognosis**: The effectiveness of treatment, primarily involving the ketogenic diet, significantly influences the prognosis. Early diagnosis and intervention are crucial. With appropriate management, many individuals experience a reduction in seizure frequency and improvement in motor and cognitive functions, although some neurological deficits may persist. Long-term outcomes depend on the severity of the symptoms and the timeliness of the treatment.

If you have any specific questions about the syndrome or need information on another aspect, please let me know!
Onset: Childhood-onset Glut1 deficiency syndrome (Glut1 DS) typically begins in infancy or early childhood. Symptoms often start within the first few months of life, but can sometimes become evident in later childhood.
Prevalence: The exact prevalence of childhood-onset GLUT1 deficiency syndrome 2 (GLUT1DS2) is not well established, but it is considered a rare disorder. Further epidemiological studies are needed to determine more precise prevalence rates.
Epidemiology: Childhood-onset Glut1 deficiency syndrome 2 (Glut1 DS2) is a rare genetic metabolic disorder caused by mutations in the SLC2A1 gene, which encodes the GLUT1 protein responsible for glucose transport across the blood-brain barrier. Epidemiological data on the prevalence and incidence of Glut1 DS2 is limited due to its rarity. However, Glut1 deficiency syndromes as a whole are estimated to affect roughly 1 in every 90,000 to 1 in 200,000 individuals worldwide. Early diagnosis is critical to managing symptoms, which typically involve neurological impairments such as developmental delay, movement disorders, and seizures.
Intractability: Yes, childhood-onset Glut1 deficiency syndrome 2, also known as glucose transporter type 1 deficiency syndrome, can be intractable. It often presents with treatment-resistant epilepsy, developmental delay, and movement disorders. Although management strategies like the ketogenic diet can help alleviate some symptoms, the condition generally requires ongoing and comprehensive treatment approaches.
Disease Severity: Childhood-onset Glut1 Deficiency Syndrome 2 (GLUT1DS2) is a neurological condition resulting from a deficiency of the glucose transporter protein type 1 (GLUT1), which is essential for the transport of glucose across the blood-brain barrier. This deficiency leads to a range of symptoms that can vary in severity. These may include developmental delay, seizures, movement disorders, and cognitive impairments. Symptoms typically manifest in infancy or early childhood. The severity can range from mild to severe, affecting quality of life and requiring ongoing medical management. There is no mention of "nan" in the context of this condition.
Healthcare Professionals: Disease Ontology ID - DOID:0090045
Pathophysiology: Childhood-onset Glut1 deficiency syndrome 2 (Glut1DS2) is a rare genetic disorder caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein Glut1. This transporter is essential for moving glucose across the blood-brain barrier. The pathophysiology of Glut1DS2 involves insufficient glucose transport into the brain, resulting in an energy deficiency that affects brain function and development. Symptoms can include seizures, motor disorders, and developmental delays. The condition is typically managed through dietary modifications, such as a ketogenic diet, to provide alternative energy sources for the brain.
Carrier Status: Childhood-onset Glut1 Deficiency Syndrome 2 is an autosomal dominant disorder. Carrier status is not applicable because the condition results from a single copy of the mutated gene being sufficient to cause the disorder.
Mechanism: Childhood-Onset GLUT1 Deficiency Syndrome 2 is a neurological disorder caused by mutations in the SLC2A1 gene. This gene encodes the GLUT1 protein, which is responsible for the transport of glucose across the blood-brain barrier into the brain. The disease mechanism involves:

1. **Mechanism:**
- In GLUT1 Deficiency Syndrome 2, the mutated GLUT1 protein has reduced functionality, leading to inadequate glucose transport into the brain. This results in insufficient glucose available for brain metabolism, which can impair brain function and development.

2. **Molecular Mechanisms:**
- **Genetic Mutation:** Mutations in SLC2A1 prevent normal production or function of the GLUT1 protein.
- **Reduced Glucose Transport:** The defective GLUT1 protein cannot effectively transport glucose into the brain.
- **Metabolic Impairment:** The brain suffers from an energy deficit due to the lack of sufficient glucose, essential for its metabolic demands.
- **Neuronal Dysfunction:** This energy deficit can lead to various neurological symptoms, including developmental delay, movement disorders, and sometimes epileptic seizures.

Overall, the insufficient glucose availability due to defective GLUT1 protein transport underlies the pathophysiology of this syndrome.
Treatment: For childhood-onset GLUT1 deficiency syndrome 2, treatment typically involves a ketogenic diet. This high-fat, low-carbohydrate diet helps increase the production of ketones, which can be used as an alternative energy source by the brain. The ketogenic diet has been shown to reduce the frequency and severity of seizures and improve other neurological symptoms associated with the syndrome. There is no known nanotechnology (nan) treatment currently established for this condition.
Compassionate Use Treatment: For childhood-onset Glut1 deficiency syndrome 2 (Glut1DS2), compassionate use treatments and off-label or experimental treatments may include:

1. **Ketogenic Diet**: Often used as a first-line treatment due to its efficacy in reducing seizures and other neurological symptoms by providing an alternative energy source to glucose for the brain.

2. **Medium Chain Triglyceride (MCT) Oil**: Sometimes used in conjunction with or as an alternative to the classic ketogenic diet to help improve ketone body production.

3. **Triheptanoin**: An experimental therapy, this triglyceride can provide an alternative energy source to glucose and is being researched for its potential benefits in Glut1DS2.

4. **Antiepileptic Drugs (AEDs)**: While not all AEDs are effective, some may be used off-label to manage seizures in Glut1DS2 patients. Effectiveness varies, and they are typically not as beneficial as dietary therapies.

5. **Modified Atkins Diet (MAD)**: Similar to the ketogenic diet but less restrictive, MAD may be considered for its beneficial effects on seizure control and other symptoms.

Consulting a healthcare professional experienced with Glut1DS2 is essential for personalized treatment planning.
Lifestyle Recommendations: For childhood-onset GLUT1 deficiency syndrome 2, lifestyle recommendations may include:

1. **Ketogenic Diet**: This high-fat, low-carbohydrate diet is frequently recommended to help provide an alternative energy source for the brain due to impaired glucose transport.

2. **Regular Monitoring**: Continuous follow-up with healthcare providers to monitor growth, development, and nutritional status.

3. **Medications**: Follow prescribed treatments, which might include anticonvulsant medications for managing seizures if present.

4. **Physical Activity**: Engage in appropriate physical activities as recommended by healthcare providers to promote overall health and development, while considering the child's physical capabilities and limitations.

5. **Education and Support**: Informed caregivers and educators to accommodate any learning or developmental needs. Support groups and resources can be beneficial for families.

6. **Adequate Hydration**: Ensure the child maintains proper hydration, which is important for overall health and well-being.

Always consult healthcare providers for personalized recommendations based on the specific needs of the child.
Medication: For childhood-onset GLUT1 deficiency syndrome 2, there are currently no specific medications approved directly for the condition. Management typically involves dietary strategies, most notably the ketogenic diet, which is high in fats and low in carbohydrates. This diet aims to provide an alternative energy source (ketones) for the brain, compensating for the defect in glucose transport. Regular monitoring and supportive therapies are also important to address symptoms and improve quality of life. Consulting with a specialist in metabolic disorders or a neurologist is crucial for individualized treatment plans.
Repurposable Drugs: There are no well-documented repurposable drugs specifically for childhood-onset GLUT1 deficiency syndrome 2 (also known as SLC2A1-related disorders). The primary treatment approach involves dietary modifications, particularly a ketogenic diet, which helps increase the supply of ketone bodies to the brain as an alternative energy source. This dietary intervention can help alleviate many of the neurological symptoms associated with the condition.
Metabolites: For childhood-onset Glut1 deficiency syndrome 2, also known as GLUT1-DS2, the primary metabolic issue is a deficiency in glucose transport across the blood-brain barrier due to mutations in the SLC2A1 gene, which encodes the GLUT1 protein. This deficiency leads to a reduction in the availability of glucose in the brain, affecting energy metabolism.

The main metabolites impacted by this condition are:
1. Blood glucose: While often normal in peripheral blood, the transport into the brain is impaired.
2. CSF (cerebrospinal fluid) glucose: Typically reduced.
3. CSF lactate: Often low due to inadequate glucose metabolism in the brain.

This metabolic profile underlies the clinical features of GLUT1-DS2 including seizures, developmental delay, and movement disorders.
Nutraceuticals: For childhood-onset Glut1 deficiency syndrome 2 (GLUT1DS2), there are currently no specific nutraceuticals approved or commonly recommended for treatment. The primary treatment involves a ketogenic diet, which bypasses the need for glucose transport into the brain by providing ketones as an alternative energy source. Nutraceuticals are generally not a focal point in managing this condition. Always consult a healthcare professional for personalized medical advice.
Peptides: In childhood-onset Glut1 deficiency syndrome 2, which is caused by mutations in the SLC2A1 gene affecting glucose transport into the brain, there isn't a direct established connection to specific peptides or nanotechnology treatments. Current management typically involves dietary interventions like the ketogenic diet to provide an alternative energy source for the brain. Further research may explore advanced treatments, but as of now, peptides and nanotechnology are not standard therapies for this condition.