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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Overweg-Plandsoen, W.C.G., Groener, J.E.M., Wang, D. et al. GLUT-1 deficiency without epilepsy—an exceptional case. J Inherit Metab Dis 26, 559–563 (2003). https://doi.org/10.1023/A:1025999914822
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DOI: https://doi.org/10.1023/A:1025999914822