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CC BY 4.0 · Neuropediatrics 2023; 54(06): 365-370
DOI: 10.1055/a-2134-8766
Original Article

Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome

Loes A. van Gemert 
1   Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
,
Nens van Alfen
2   Department of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
,
Lizzy van Gaal
2   Department of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
,
Saskia Wortmann
3   University Childrens Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria
4   Department of Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands
,
Michèl A. Willemsen
1   Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
› Author Affiliations Funding This work was supported by funding from the GLUT1 Deficiency Foundation (Owingsville, KY, United States). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
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Abstract

Background Glucose is an important fuel for the brain. In glucose transporter 1 deficiency syndrome (GLUT1DS), the transport of glucose across the blood–brain barrier is limited. Most individuals with GLUT1DS present with developmental problems, epilepsy, and (paroxysmal) movement disorders, and respond favorably to the ketogenic diet. Similar to ketones, lactate is an alternative energy source for the brain. The aim of this study is to investigate whether intravenous infusion of sodium lactate in children with GLUT1DS has beneficial effects on their epilepsy.

Methods We performed a proof of principle study with two subjects with GLUT1DS who were not on a ketogenic diet and suffered from absence epilepsy. After overnight fasting, sodium lactate (600 mmol/L) was infused during 120 minutes, under video electroencephalographic (EEG) recording and monitoring of serum lactate, glucose, electrolytes, and pH. Furthermore, the EEGs were compared with pre-/postprandial EEGs of both subjects, obtained shortly before the study.

Results Fasting EEGs of both subjects showed frequent bilateral, frontocentral polyspike and wave complexes. In one subject, no more epileptic discharges were seen postprandially and after the start of lactate infusion. The EEG of the other subject did not change, neither postprandially nor after lactate infusion. Serum pH, lactate, and sodium changed temporarily during the study.

Conclusion This study suggests that sodium lactate infusion is possible in individuals with GLUT1DS, and may have potential therapeutic effects. Cellular abnormalities, beyond neuronal energy failure, may contribute to the underlying disease mechanisms of GLUT1DS, explaining why not all individuals respond to the supplementation of alternative energy sources.

Keywords

glucose transporter 1 deficiency syndrome - sodium lactate infusion - epilepsy - electroencephalography - experimental therapy

Authors' Contribution

L.A.V.G., N.V.A., and M.A.W. contributed to the conception and design of the study. All the authors contributed to acquisition and analysis of data, and drafting a significant portion of the manuscript and figures.




Publication History

Received: 22 May 2023

Accepted: 30 July 2023

Accepted Manuscript online:
21 July 2023

Article published online:
22 September 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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