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New GLUT-1 mutation in a child with treatment-resistant epilepsy

Laurel Slaughter1, George Vartzelis, Todd Arthur

  • 1Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH 45229, United States. laurel.malinowski@cchmc.org

Epilepsy Research
|February 25, 2009
PubMed

Insights

A new mutation in the glucose transporter type I (GLUT-1) gene caused severe epilepsy and developmental delay in a child. Treatment with a modified Atkins diet led to clinical improvement, highlighting a new therapeutic approach for GLUT-1 deficiency.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Glucose transporter type I (GLUT-1) deficiency syndrome is a rare neurological disorder.
  • Mutations in the GLUT-1 gene impair glucose transport to the brain, leading to characteristic symptoms.

Observation:

  • A previously unreported mutation, c.1454 C>T (pPro485Leu), was identified in an 11-year-old girl with intractable infantile-onset epilepsy and mild developmental delay.
  • Cerebrospinal fluid (CSF) to serum glucose ratio was 45%, indicative of impaired glucose transport.

Findings:

  • The novel c.1454 C>T (pPro485Leu) mutation is identified as a likely cause of the patient's severe neurological symptoms.
  • The patient demonstrated significant clinical improvement following the implementation of a modified Atkins diet.

Implications:

  • This case expands the mutational spectrum of GLUT-1 deficiency syndrome.
  • The positive response to a modified Atkins diet suggests its efficacy in managing this specific GLUT-1 mutation.
  • Further research into genotype-phenotype correlations and dietary interventions for GLUT-1 deficiency is warranted.

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