GLUT1 deficiency: Difference between revisions

Revision as of 06:43, 16 February 2025

Overview

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

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

The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include:

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.

Related pages

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-'''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.
+{{DISPLAYTITLE:GLUT1 Deficiency Syndrome}}
-==Symptoms and Signs==
+== Overview ==
-The clinical presentation of GLUT1 deficiency syndrome can vary widely among affected individuals. Common symptoms include:
+[[File:Autosomal dominant - en.svg|thumb|right|Diagram of autosomal dominant inheritance.]]
-* [[Epilepsy]]: Seizures of various types that are often resistant to standard antiepileptic drugs.
+'''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.
-* [[Developmental delay]] and [[intellectual disability]]: Varying degrees of cognitive impairment.
-* [[Movement disorder]]s: Including ataxia (lack of muscle coordination), dystonia (involuntary muscle contractions), and spasticity.
-* [[Microcephaly]]: A condition where the head circumference is smaller than normal for an individual's age and sex.
-==Diagnosis==
+== Genetics ==
-Diagnosis of GLUT1 deficiency syndrome involves a combination of clinical evaluation, laboratory testing, and genetic testing. Key diagnostic tests include:
+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.
-* [[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.
-* Genetic testing to identify mutations in the SLC2A1 gene.
-==Treatment==
+== Symptoms ==
-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.
+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]]
-==Prognosis==
+== Diagnosis ==
-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.
+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.
-==Epidemiology==
+== Treatment ==
-GLUT1 deficiency syndrome is a rare condition, with an estimated incidence of 1 in 90,000 births. It affects males and females equally.
+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.
-==History==
+== Prognosis ==
-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.
+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==
+== Related pages ==
-* [[Epilepsy]]
+* [[Blood-brain barrier]]
 * [[Ketogenic diet]]
+* [[Seizure disorder]]
 * [[Genetic disorder]]
-* [[Neurology]]
 [[Category:Genetic disorders]]
 [[Category:Neurological disorders]]
-[[Category:Rare diseases]]
-[[Category:Metabolic disorders]]
-{{Medicine-stub}}