Glucose transport protein deficiency: An emerging syndrome with therapeutic implications

The further definition of a novel clinical syndrome manifested by infantile seizures, acquired microcephaly, developmental delay, and persistent hypoglycorrachia resulting from defective glucose transport across the blood-brain barrier. Ten children with glucose transport protein syndrome (GTPS) were evaluated. Thirty-six lumbar punctures were performed, and the CSF metabolites were compared to normal and disease controls. The effects of age on …