GLUT1 deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = GLUT1 deficiency | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] pattern of inheritance | |||
| synonyms = [[Glucose transporter type 1 deficiency syndrome]], [[De Vivo disease]] | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Seizures]], [[developmental delay]], [[microcephaly]], [[movement disorders]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[SLC2A1]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[Lumbar puncture]] for [[CSF]] glucose | |||
| differential = [[Epilepsy]], [[Cerebral palsy]], [[Metabolic disorders]] | |||
| treatment = [[Ketogenic diet]], [[Antiepileptic drugs]] | |||
| medication = [[Valproic acid]], [[Lamotrigine]] | |||
| prognosis = Variable, depends on severity and treatment | |||
| frequency = Rare, estimated 1 in 90,000 to 1 in 24,000 | |||
| deaths = Rarely directly fatal, but complications can arise | |||
}} | |||
{{DISPLAYTITLE:GLUT1 Deficiency Syndrome}} | {{DISPLAYTITLE:GLUT1 Deficiency Syndrome}} | ||
'''GLUT1 Deficiency Syndrome''' is a rare genetic disorder that affects the [[nervous system]]. It is caused by a deficiency of the [[glucose transporter type 1]] (GLUT1), which is responsible for transporting glucose across the [[blood-brain barrier]]. This deficiency leads to a shortage of glucose in the [[cerebrospinal fluid]], resulting in a variety of neurological symptoms. | '''GLUT1 Deficiency Syndrome''' is a rare genetic disorder that affects the [[nervous system]]. It is caused by a deficiency of the [[glucose transporter type 1]] (GLUT1), which is responsible for transporting glucose across the [[blood-brain barrier]]. This deficiency leads to a shortage of glucose in the [[cerebrospinal fluid]], resulting in a variety of neurological symptoms. | ||
== Genetics == | == Genetics == | ||
GLUT1 Deficiency Syndrome is typically inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is caused by mutations in the [[SLC2A1]] gene, which encodes the GLUT1 protein. In some cases, the mutation occurs de novo, meaning it is a new mutation that was not inherited from either parent. | GLUT1 Deficiency Syndrome is typically inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is caused by mutations in the [[SLC2A1]] gene, which encodes the GLUT1 protein. In some cases, the mutation occurs de novo, meaning it is a new mutation that was not inherited from either parent. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include: | The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include: | ||
| Line 15: | Line 31: | ||
* [[Microcephaly]] | * [[Microcephaly]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of GLUT1 Deficiency Syndrome is based on clinical evaluation, laboratory tests, and genetic testing. A key diagnostic test is the measurement of glucose levels in the cerebrospinal fluid, which are typically low in affected individuals. Genetic testing can confirm the diagnosis by identifying mutations in the SLC2A1 gene. | Diagnosis of GLUT1 Deficiency Syndrome is based on clinical evaluation, laboratory tests, and genetic testing. A key diagnostic test is the measurement of glucose levels in the cerebrospinal fluid, which are typically low in affected individuals. Genetic testing can confirm the diagnosis by identifying mutations in the SLC2A1 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for GLUT1 Deficiency Syndrome, but treatment focuses on managing symptoms and improving quality of life. The [[ketogenic diet]], which is high in fats and low in carbohydrates, is often used to provide an alternative energy source for the brain. This diet can help reduce seizures and improve other neurological symptoms. | There is currently no cure for GLUT1 Deficiency Syndrome, but treatment focuses on managing symptoms and improving quality of life. The [[ketogenic diet]], which is high in fats and low in carbohydrates, is often used to provide an alternative energy source for the brain. This diet can help reduce seizures and improve other neurological symptoms. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with GLUT1 Deficiency Syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes and help manage symptoms more effectively. | The prognosis for individuals with GLUT1 Deficiency Syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes and help manage symptoms more effectively. | ||
== See also == | |||
== | |||
* [[Blood-brain barrier]] | * [[Blood-brain barrier]] | ||
* [[Ketogenic diet]] | * [[Ketogenic diet]] | ||
* [[Seizure disorder]] | * [[Seizure disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 02:16, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| GLUT1 deficiency | |
|---|---|
| |
| Synonyms | Glucose transporter type 1 deficiency syndrome, De Vivo disease |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Seizures, developmental delay, microcephaly, movement disorders |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SLC2A1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, Lumbar puncture for CSF glucose |
| Differential diagnosis | Epilepsy, Cerebral palsy, Metabolic disorders |
| Prevention | N/A |
| Treatment | Ketogenic diet, Antiepileptic drugs |
| Medication | Valproic acid, Lamotrigine |
| Prognosis | Variable, depends on severity and treatment |
| Frequency | Rare, estimated 1 in 90,000 to 1 in 24,000 |
| Deaths | Rarely directly fatal, but complications can arise |
GLUT1 Deficiency Syndrome is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the glucose transporter type 1 (GLUT1), which is responsible for transporting glucose across the blood-brain barrier. This deficiency leads to a shortage of glucose in the cerebrospinal fluid, resulting in a variety of neurological symptoms.
Genetics[edit]
GLUT1 Deficiency Syndrome is typically inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is caused by mutations in the SLC2A1 gene, which encodes the GLUT1 protein. In some cases, the mutation occurs de novo, meaning it is a new mutation that was not inherited from either parent.
Symptoms[edit]
The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include:
- Seizures
- Developmental delay
- Movement disorders such as ataxia
- Microcephaly
- Intellectual disability
Diagnosis[edit]
Diagnosis of GLUT1 Deficiency Syndrome is based on clinical evaluation, laboratory tests, and genetic testing. A key diagnostic test is the measurement of glucose levels in the cerebrospinal fluid, which are typically low in affected individuals. Genetic testing can confirm the diagnosis by identifying mutations in the SLC2A1 gene.
Treatment[edit]
There is currently no cure for GLUT1 Deficiency Syndrome, but treatment focuses on managing symptoms and improving quality of life. The ketogenic diet, which is high in fats and low in carbohydrates, is often used to provide an alternative energy source for the brain. This diet can help reduce seizures and improve other neurological symptoms.
Prognosis[edit]
The prognosis for individuals with GLUT1 Deficiency Syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes and help manage symptoms more effectively.
