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Journal of Inherited Metabolic Disease

, Volume 26, Issue 6, pp 559–563 | Cite as

GLUT-1 deficiency without epilepsy—an exceptional case

  • W. C. G. Overweg-Plandsoen
  • J. E. M. Groener
  • D. Wang
  • W. Onkenhout
  • O. F. Brouwer
  • H. D. Bakker
  • D. C. De Vivo
Article

Abstract

The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly. In most patients, treatment with a ketogenic diet proved to be successful in controlling the epilepsy. We report a 9-year-old boy with retardation and ataxia, but without epilepsy, caused by GLUT-1 deficiency, proven biochemically and by DNA analysis. Treatment with a medium-chain triglyceride ketogenic diet had a beneficial effect.

Keywords

Epileptic Seizure Ketogenic Diet Dystonic Posturing Ciency Syndrome Autosomal Dominant Transmission 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • W. C. G. Overweg-Plandsoen
    • 1
    • 2
  • J. E. M. Groener
    • 3
  • D. Wang
    • 4
  • W. Onkenhout
    • 3
  • O. F. Brouwer
    • 5
  • H. D. Bakker
    • 6
  • D. C. De Vivo
    • 4
  1. 1.Department of Paediatric NeurologyLeiden University Medical CentreLeidenThe Netherlands
  2. 2.Department of NeurologyLeiden University Medical CentreLeidenThe Netherlands
  3. 3.Department of PaediatricsLeiden University Medical CentreLeidenThe Netherlands
  4. 4.Columbia – Presbyterian Medical CenterThe Neurological InstituteNew YorkUSA
  5. 5.Department of NeurologyGröningen University HospitalGroningen
  6. 6.Academic Medical CentreEmma Children's Hospital AMCAmsterdamThe Netherlands

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