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

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

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.

J. Inherit. Metab. Dis. 26:559-563(2003) [PubMed] [Europe PMC]

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