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Case Reports
. 2003;26(6):559-63.
doi: 10.1023/a:1025999914822.

GLUT-1 deficiency without epilepsy--an exceptional case

W C G Overweg-Plandsoen  1 , J E M Groener, D Wang, W Onkenhout, O F Brouwer, H D Bakker, D C De Vivo
Affiliations
Case Reports

GLUT-1 deficiency without epilepsy--an exceptional case

W C G Overweg-Plandsoen et al. J Inherit Metab Dis. 2003.

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.

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