GLUT1 deficiency with delayed myelination responding to ketogenic diet

Pediatr Neurol. 2007 Aug;37(2):130-3. doi: 10.1016/j.pediatrneurol.2007.03.009.

Abstract

Monitoring effects of a ketogenic diet in GLUT1 deficiency syndrome without seizures is difficult. Neuroimaging is considered uninformative. We report the case of a boy with neurodevelopmental delay, severe ataxia, an E54X-mutation in the SLC2A1 gene (previously GLUT1), and neuroimaging abnormalities indicative of delayed myelination. Six months on a ketogenic diet resulted in an improved high subcortical white matter signal on T2-weighted images and a reduced N-acetylaspartate/creatine ratio. We conclude that delayed subcortical myelination may occur in GLUT1 deficiency syndrome as a nonspecific finding reflecting developmental delay. In patients without seizures, cranial magnetic resonance imaging and magnetic resonance spectroscopy may prove useful tools to monitor the response to a ketogenic diet.

Publication types

  • Case Reports

MeSH terms

  • Ataxia* / diet therapy
  • Ataxia* / metabolism
  • Ataxia* / pathology
  • Child, Preschool
  • Developmental Disabilities* / diet therapy
  • Developmental Disabilities* / metabolism
  • Developmental Disabilities* / pathology
  • Diet, Carbohydrate-Restricted*
  • Dietary Fats / administration & dosage
  • Glucose Transporter Type 1 / deficiency*
  • Humans
  • Ketone Bodies / metabolism
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Myelin Sheath / metabolism
  • Myelin Sheath / pathology*

Substances

  • Dietary Fats
  • Glucose Transporter Type 1
  • Ketone Bodies
  • SLC2A1 protein, human