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J Inherit Metab Dis. 2003;26(6):559-63.

GLUT-1 deficiency without epilepsy--an exceptional case.

Author information

  • 1Department of Paediatric Neurology, Leiden University Medical Centre, Leiden, The Netherlands. w.c.g.plandsoen.neurology@lumc.nl

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.

PMID:
14605501
[PubMed - indexed for MEDLINE]
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