Article
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome.
Journal of clinical laboratory analysis - 1 Jan 1999
Klepper J, Garcia-Alvarez M, O'Driscoll K R, Parides M K, Wang D, Ho Y Y, De Vivo D C
Abstract excerpt
Glucose transport into the brain is mediated by a facilitative glucose-transporter protein, GLUT-1. A GLUT-1 defect results in the Glucose-Transporter-Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and acquired microcephaly. The diagnosis is currently based on clinical features, low to normal lactate levels and low glucose levels (hypoglycorrhachia) in the cerebrospinal fluid,...
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