Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome Journal Article
| Authors: | Klepper, J.; Vera, J. C.; De Vivo, D. C. |
| Article Title: | Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome |
| Abstract: | The 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. |
| Keywords: | adult; child; middle aged; case report; pathophysiology; syndrome; blood brain barrier; blood-brain barrier; seizure; ascorbic acid; developmental disorder; glucose transport; dehydroascorbic acid; oxidation-reduction; erythrocytes; glucose transporter; monosaccharide transport proteins; humans; human; male; female; priority journal; article; glucose brain level |
| Journal Title: | Annals of Neurology |
| Volume: | 44 |
| Issue: | 2 |
| ISSN: | 0364-5134 |
| Publisher: | Wiley Blackwell |
| Date Published: | 1998-08-01 |
| Start Page: | 286 |
| End Page: | 287 |
| Language: | English |
| DOI: | 10.1002/ana.410440225 |
| PUBMED: | 9708557 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 12 December 2016 -- Source: Scopus |
