GLUT1 deficiency: Difference between revisions

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

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 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:

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.

@@ Line 1: / Line 1: @@
-'''GLUT1 deficiency syndrome''' (GLUT1-DS) is a rare genetic disorder that impairs brain metabolism. It is caused by mutations in the [[SLC2A1]] gene, which encodes the glucose transporter protein GLUT1. This protein facilitates the transport of glucose across the blood-brain barrier, a critical process for providing energy to the central nervous system. The deficiency in GLUT1 results in inadequate glucose available to the brain, leading to a variety of neurological symptoms.
+{{SI}}
+{{Infobox medical condition
-==Symptoms and Signs==
+| name            = GLUT1 deficiency
-The clinical presentation of GLUT1 deficiency syndrome can vary widely among affected individuals. Common symptoms include:
+| image           = [[File:Autosomal_dominant_-_en.svg|200px]]
-* [[Epilepsy]]: Seizures of various types that are often resistant to standard antiepileptic drugs.
+| caption         = [[Autosomal dominant]] pattern of inheritance
-* [[Developmental delay]] and [[intellectual disability]]: Varying degrees of cognitive impairment.
+| synonyms        = [[Glucose transporter type 1 deficiency syndrome]], [[De Vivo disease]]
-* [[Movement disorder]]s: Including ataxia (lack of muscle coordination), dystonia (involuntary muscle contractions), and spasticity.
+| pronounce       =
-* [[Microcephaly]]: A condition where the head circumference is smaller than normal for an individual's age and sex.
+| specialty       = [[Neurology]], [[Genetics]]
+| symptoms        = [[Seizures]], [[developmental delay]], [[microcephaly]], [[movement disorders]]
-==Diagnosis==
+| onset           = [[Infancy]]
-Diagnosis of GLUT1 deficiency syndrome involves a combination of clinical evaluation, laboratory testing, and genetic testing. Key diagnostic tests include:
+| duration        = [[Lifelong]]
-* [[Lumbar puncture]] to measure glucose levels in the cerebrospinal fluid (CSF). A low CSF glucose level (hypoglycorrhachia) with a normal blood glucose level is indicative of GLUT1 deficiency.
+| causes          = Mutations in the [[SLC2A1]] gene
-* Genetic testing to identify mutations in the SLC2A1 gene.
+| risks           = [[Family history]]
+| diagnosis       = [[Genetic testing]], [[Lumbar puncture]] for [[CSF]] glucose
-==Treatment==
+| differential    = [[Epilepsy]], [[Cerebral palsy]], [[Metabolic disorders]]
-There is no cure for GLUT1 deficiency syndrome, but the condition can be managed with dietary therapy. The [[ketogenic diet]], which is high in fats and low in carbohydrates, is the primary treatment. This diet provides an alternative source of energy for the brain, bypassing the need for glucose transport.
+| treatment       = [[Ketogenic diet]], [[Antiepileptic drugs]]
+| medication      = [[Valproic acid]], [[Lamotrigine]]
-==Prognosis==
+| prognosis       = Variable, depends on severity and treatment
-The prognosis for individuals with GLUT1 deficiency syndrome varies. Early diagnosis and management with the ketogenic diet can improve symptoms and quality of life. However, some individuals may continue to experience neurological symptoms and developmental delays.
+| frequency       = Rare, estimated 1 in 90,000 to 1 in 24,000
+| deaths          = Rarely directly fatal, but complications can arise
-==Epidemiology==
+}}
-GLUT1 deficiency syndrome is a rare condition, with an estimated incidence of 1 in 90,000 births. It affects males and females equally.
+{{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.
-==History==
+== Genetics ==
-GLUT1 deficiency syndrome was first described in 1991 by Dr. Darryl De Vivo and colleagues at Columbia University. Since then, over 300 cases have been reported worldwide.
+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 ==
-==See Also==
+The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include:
-* [[Epilepsy]]
+* [[Seizures]]
+* Developmental delay
+* [[Movement disorders]] such as [[ataxia]]
+* [[Microcephaly]]
+* [[Intellectual disability]]
+== 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.
+== 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.
+== 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.
+== See also ==
+* [[Blood-brain barrier]]
 * [[Ketogenic diet]]
+* [[Seizure disorder]]
 * [[Genetic disorder]]
-* [[Neurology]]
 [[Category:Genetic disorders]]
 [[Category:Neurological disorders]]
-[[Category:Rare diseases]]
-[[Category:Metabolic disorders]]
-{{Medicine-stub}}

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