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pubmed-article:9708557pubmed:abstractTextThe glucose transporter protein syndrome (GTPS) is caused by defective transport of glucose across the blood-brain barrier via the glucose transporter GLUT1, resulting in hypoglycorrhachia, infantile seizures, and developmental delay. Recent reports indicated that GLUT1 is a multifunctional transporter. We investigated the transport of vitamin C in its oxidized form (dehydroascorbic acid) via GLUT1 into erythrocytes of 2 patients with GTPS. In both patients, uptake of oxidized vitamin C was 61% of the mothers' values. Our findings are consistent with recent observations that vitamin C is transported in its oxidized form via GLUT1. We speculate that impaired transport of this substrate and perhaps other substrates in GTPS might contribute to the pathophysiology of this condition.lld:pubmed
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pubmed-article:9708557pubmed:authorpubmed-author:De VivoD CDClld:pubmed
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pubmed-article:9708557pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:9708557pubmed:year1998lld:pubmed
pubmed-article:9708557pubmed:articleTitleDeficient transport of dehydroascorbic acid in the glucose transporter protein syndrome.lld:pubmed
pubmed-article:9708557pubmed:affiliationNeurological Institute, Columbia University, New York, NY 10032, USA.lld:pubmed
pubmed-article:9708557pubmed:publicationTypeJournal Articlelld:pubmed
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pubmed-article:9708557pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed