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Milder phenotypes of glucose transporter type 1 deficiency syndrome

Geetha Anand1, Anuruddha Padeniya, Donncha Hanrahan

  • 1Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK. anandgeetha97@gmail.com

Developmental Medicine and Child Neurology
|June 9, 2011
PubMed

Insights

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable neurological condition. Mild phenotypes are increasingly recognized, emphasizing early diagnosis for unexplained neurological disorders.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Glucose transporter type 1 deficiency syndrome (GLUT1DS) impairs glucose transport to the brain.
  • Classical GLUT1DS presents with infantile epilepsy and severe developmental delay.
  • Expanding recognition of non-classical phenotypes includes movement disorders and early-onset absence epilepsy.

Observation:

  • Five individuals with mild GLUT1DS phenotypes were identified.
  • Mean age at diagnosis was 8 years 8 months.
  • Symptoms included mild learning difficulties, motor delay, absence epilepsy, gait disorders, and dystonia.

Findings:

  • Hallmark of GLUT1DS is hypoglycorrhachia (CSF glucose <2.2 mmol/l) with a CSF/blood glucose ratio <0.4.
  • GLUT1DS is caused by mutations in the SLC2A1 gene.
  • Phenotypical parallels exist between GLUT1DS and paroxysmal exertion-induced dyskinesia.

Implications:

  • Highlights the importance of considering GLUT1DS in unexplained neurological disorders with mild symptoms.
  • Suggests GLUT1DS should be investigated in patients with early-onset absence epilepsy, dystonia, or fluctuating gait disorders.
  • Emphasizes the expanding clinical spectrum of GLUT1DS and the need for broader diagnostic awareness.

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