Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Marit Schwantje, Lilly M. Verhagen, Peter M. van Hasselt, Sabine A. Fuchs*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterised by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the brain. This causes epilepsy, movement disorders, and cognitive impairment. Treatment with ketogenic diet provides ketones as alternative energy source. However, not all GLUT1DS patients are on dietary treatment (worldwide registry: 77/181 [43%] of patients). The current 25-year experience allows evaluation of effects and tolerability of dietary treatment for GLUT1DS. To this end, literature was searched up to January 2019 for individual case reports and series reporting (side) effects of dietary treatment for GLUT1DS. Upon aggregation of data for analysis, we identified 270 GLUT1DS patients with dietary treatment with a mean follow-up of 53 months. Epilepsy improved for 83% of 230 patients and remained unchanged for 17%, movement disorders improved for 82% of 127 patients and remained unchanged for 17%, and cognition improved for 59% of 58 patients and remained stable for 40%. Effects on epilepsy were seen within days/weeks and were most pronounced in patients with early treatment initiation. Effects on movement disorders were noticed within months and were strongest in patients with higher cerebrospinal fluid-to-blood glucose ratio. Although side effects were minimal, 18% of 270 patients reported poor compliance. In individual patients, symptoms deteriorated upon low ketosis, poor compliance, or treatment discontinuation. Based on the good tolerability and strong favourable effect of dietary treatment on GLUT1DS symptoms, we advocate dietary treatment in all GLUT1DS patients and prompt diagnosis or screening to allow early treatment.

Original languageEnglish
Pages (from-to)216-222
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number2
Early online date12 Oct 2019
DOIs
Publication statusPublished - Mar 2020

Keywords

  • dietary treatment
  • GLUT1DS
  • ketogenic diet
  • SLC2A1 mutation
  • treatment effects

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