Pediatric Neurology
Volume 37, Issue 2 , Pages 130-133 , August 2007

GLUT1 Deficiency With Delayed Myelination Responding to Ketogenic Diet

  • Jörg Klepper, MD

      Affiliations

    • Children’s Hospital Aschaffenburg, Aschaffenburg; Germany
    • Corresponding Author InformationCommunications should be addressed to: Dr. Klepper; Children’s Hospital Aschaffenburg; Am Hasenkopf; D-63739 Aschaffenburg; Germany.
    • ,
  • Volkher Engelbrecht, MD

      Affiliations

    • Department of Radiology, Klinikum St. Marien, Amberg, Germany
    • ,
  • Hans Scheffer, PhD

      Affiliations

    • Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
    • ,
  • Marjo S. van der Knaap, MD, PhD

      Affiliations

    • Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
    • ,
  • Andreas Fiedler, MD

      Affiliations

    • Department of Pediatrics, Klinikum St. Marien, Amberg, Germany

Received 23 October 2006 ,Accepted 22 March 2007.

References 

  1. De Vivo DC, Wang D, Pascual JM, Ho YY. Glucose transporter protein syndromes. Int Rev Neurobiol. 2002;51:259–288
  2. Klepper J, Voit T. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain—a review. Eur J Pediatr. 2002;161:295–304
  3. Klepper J. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol. 2004;17:193–196
  4. Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics. 2005;36:302–308
  5. Overweg-Plandsoen WC, Groener JE, Wang D, Onkenhout W, Brouwer OF, Bakker HD, et al. GLUT-1 deficiency without epilepsy: an exceptional case. J Inherit Metab Dis. 2003;26:559–563
  6. Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57:111–118
  7. De Vivo DC, Leary L, Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol. 2002;17:3S15–3S25
  8. Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet. 2001;10:63–68
  9. Mueckler M. Facilitative glucose transporters. Eur J Biochem. 1994;219:713–725
  10. Klepper J, Wang D, Fischbarg J, Vera JC, Jarjour IT, O’Driscoll KR, et al. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. Neurochem Res. 1999;24:587–594
  11. van der Knaap MS, Valk J, Bakker CJ, Schooneveld M, Faber JA, Willemse J, et al. Myelination as expression of the functional maturity of the brain. Dev Med Child Neurol. 1991;33:849–857
  12. Boles RG, Seashore MR, Mitchell WG, Kollros PR, Mofidi S, Novotny EJ. Glucose transporter type 1 deficiency: a study of two cases with video-EEG. Eur J Pediatr. 1999;158:978–983
  13. Henneke M, Wang D, Korinthenberg R, Pascual JM, Yang H, Engelstad K, et al. GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins. [Abstract] Neuropediatrics. 2005;36:140
  14. Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, et al. l-2-Hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol. 2005;62:70
  15. Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 2002;52:458–464

PII: S0887-8994(07)00130-0

doi: 10.1016/j.pediatrneurol.2007.03.009

Pediatric Neurology
Volume 37, Issue 2 , Pages 130-133 , August 2007

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