2022
DOI: 10.1016/j.ejpn.2022.04.005
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Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group

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Cited by 4 publications
(3 citation statements)
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“…The findings in subject 2 may indicate that her brain suffers from a problem that cannot be solved by offering carbohydrates (breakfast) or alternative energy sources (lactate or ketone bodies), and as such confirm that additional cellular abnormalities, on top of the chronic energy failure, may contribute to the underlying disease mechanisms of GLUT1DS. 30 31 32 33 …”
Section: Discussionmentioning
confidence: 99%
“…The findings in subject 2 may indicate that her brain suffers from a problem that cannot be solved by offering carbohydrates (breakfast) or alternative energy sources (lactate or ketone bodies), and as such confirm that additional cellular abnormalities, on top of the chronic energy failure, may contribute to the underlying disease mechanisms of GLUT1DS. 30 31 32 33 …”
Section: Discussionmentioning
confidence: 99%
“…A proof of concept study in two people with Glut1DS showed that lactate infusion is possible. 117 Infusion of a 600 mmol•L −1 sodium lactate solution, tailored to increase serum lactate levels from 1 to 6 mmol•L −1 , did not lead to excessive alterations in serum sodium levels and pH, and reduced epileptic discharges in one subject but not the other. However, this infusion approach is unlikely to become a practical chronic treatment, as it can only provide additional fuel for a short time.…”
Section: Approaches Under Investigationmentioning
confidence: 93%
“…Transfusion of red blood cells and lactate have been tested in people with Glut1DS. 116,117 Healthy erythrocytes contain high amounts of glucose, namely approximately 40% of the total blood glucose amounts. Replacing Glut1mutant erythrocytes with healthy donor erythrocytes via exchange transfusion was tested as an approach to supply the brain with higher amounts of glucose in three people with Glut1DS in their 20s, who consumed "normal, non-ketogenic" diets.…”
Section: Approaches Under Investigationmentioning
confidence: 99%