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.
Neurological Institute, Columbia University, New York, NY 10032, USA.
J
J
Klepper
J C
JC
Vera
D C
DC
De Vivo
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