Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Glucose transporter type1 (GLUT-1) deficiency.

Neil Gordon1, Richard W Newton

  • 1Huntlywood, 3 Styal Road, Wilmslow SK9 4AE, UK. neil-gordon@doctors.org.uk

Brain & Development
|September 18, 2003
PubMed
Summary

Glucose transporter type 1 (GLUT-1) deficiency is a rare but preventable cause of learning difficulties. Early diagnosis is crucial, especially with infantile seizures, developmental delay, and low cerebrospinal fluid glucose levels.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Rapid detection of AAV8 binding antibodies in gene therapy candidates: development of a point-of-care approach.

Gene therapy·2025
Same author

Evaluating and implementing machine learning models for personalised mobile health app recommendations.

PloS one·2025
Same author

A 27-Year Experience With Day Surgery Transurethral Resection of the Prostate.

Cureus·2024
Same author

Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2023
Same author

Closing Gaps in Lifestyle Adherence for Secondary Prevention of Coronary Heart Disease.

The American journal of cardiology·2021
Same author

The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS).

Epilepsia·2019

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Glucose transporter type 1 (GLUT-1) deficiency is a rare condition.
  • It can lead to severe learning difficulties and developmental delays.
  • Early diagnosis is critical for effective management.

Purpose of the Study:

  • To highlight the importance of early diagnosis of GLUT-1 deficiency.
  • To outline the key diagnostic indicators and genetic basis.
  • To discuss management strategies and substances to avoid.

Main Methods:

  • Clinical observation of infantile seizures, microcephaly, and developmental delay.
  • Biochemical analysis of cerebrospinal fluid (CSF) and blood glucose levels.
  • Genetic analysis of the GLUT-1 gene on chromosome 1.

Main Results:

  • Low CSF glucose levels differentiate GLUT-1 deficiency from other conditions.
  • The condition is linked to heterozygous mutations in the GLUT-1 gene.
  • Impaired glucose transport across the blood-brain barrier is central to the pathology.

Conclusions:

  • GLUT-1 deficiency requires prompt diagnosis based on clinical and biochemical findings.
  • Management involves anti-epileptic drugs, ketogenic diet, and avoidance of inhibitors like caffeine.
  • Understanding GLUT-1's role in brain glucose supply is vital for neurological health.

Related Experiment Videos