Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome.
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.
Klepper
J
J
Neurological Institute, Columbia University, New York, NY 10032, USA.
Vera
J C
JC
De Vivo
D C
DC
D000328:Adult; D001205:Ascorbic Acid / Q000493:pharmacokinetics; D001812:Blood-Brain Barrier; D002648:Child; D003683:Dehydroascorbic Acid / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D010084:Oxidation-Reduction; D013577:Syndrome
D009004:Monosaccharide Transport Proteins; D001205:Ascorbic Acid; D003683:Dehydroascorbic Acid