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

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          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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          Author and article information

          Journal
          J Inherit Metab Dis
          Journal of inherited metabolic disease
          Springer Science and Business Media LLC
          0141-8955
          0141-8955
          2003
          : 26
          : 6
          Affiliations
          [1 ] Department of Paediatric Neurology, Leiden University Medical Centre, Leiden, The Netherlands. w.c.g.plandsoen.neurology@lumc.nl
          Article
          5149903
          10.1023/a:1025999914822
          14605501
          32b4e56b-745a-4a10-a85b-b85160d34018
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