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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...

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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
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GLUT1 deficiency without epilepsy: yet another case.

Charuta Joshi1, Cheryl R Greenberg, Darryl De Vivo

  • 1Section of Pediatric Neurology, University of Manitoba, Winnipeg, Canada.

Journal of Child Neurology
|April 12, 2008
PubMed
Summary
This summary is machine-generated.

Glucose transporter type 1 (GLUT1) deficiency syndrome, a rare metabolic disorder, can present with intermittent ataxia as an initial symptom. Early diagnosis through lumbar puncture is crucial for managing neurodevelopmental delay in affected children.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare metabolic disorder.
  • It is characterized by impaired glucose transport into the brain, leading to low cerebrospinal fluid glucose levels.
  • Intermittent ataxia is an uncommon initial manifestation of GLUT1 deficiency syndrome.

Observation:

  • This case report details a 13-year-old boy with a history of intermittent ataxia.
  • The patient was diagnosed with GLUT1 deficiency syndrome following the onset of seizures at age 11.
  • This presentation is unusual, as ataxia was the primary symptom before seizures appeared.

Findings:

  • The diagnosis of GLUT1 deficiency syndrome was confirmed in the patient.
  • The case highlights a rare initial presentation of the syndrome with intermittent ataxia.
  • Cerebrospinal fluid glucose levels were found to be low, consistent with GLUT1 deficiency.

Implications:

  • This case underscores the importance of considering GLUT1 deficiency syndrome in children with unexplained neurodevelopmental delay and intermittent ataxia.
  • A thorough lumbar puncture is essential for diagnosing GLUT1 deficiency syndrome, even with atypical initial symptoms.
  • Early identification and management can potentially improve outcomes for patients with GLUT1 deficiency syndrome.