Glucose Transporter Type I Deficiency Causing Mitochondrial Dysfunction

  title={Glucose Transporter Type I Deficiency Causing Mitochondrial Dysfunction},
  author={Jeremy E Lankford and Ian J. Butler and M. Koenig},
  journal={Journal of Child Neurology},
  pages={796 - 798}
  • Jeremy E Lankford, Ian J. Butler, M. Koenig
  • Published 2012
  • Biology, Medicine
  • Journal of Child Neurology
  • Mitochondrial disorders are varied in their clinical presentation and pathogenesis. Diagnosis is usually made clinically and genetic defects are often not identified. We present a 6-year-old female patient with a diagnosis of a mitochondrial disorder secondary to complex I deficiency with seizures and developmental delay from infancy. Glucose transporter deficiency was suspected after a lumbar puncture showed hypoglycorrhachia. Her disorder was confirmed genetically as a mutation in her solute… CONTINUE READING

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