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.
Highlights
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in solute carrier family 2 member 1 (SLC2A1), which result in deficient glucose transport to the brain.[8]
GLUT1DS was defined as presence of epilepsy, movement disorder, and/or cognitive impairment and cerebrospinal fluid (CSF)-to-blood glucose ratio
We identified 270 GLUT1DS patients using dietary treatment in 60 case reports, series, and surveys (Supporting Information 2)
Summary
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterised by early onset epilepsy, movement disorders, and cognitive impairment.[8]. Alternative dietary treatments involve lower fat-to-carbohydrate ratios, medium-chain triglycerides (MCT) supplementation, and modified Atkins diet (MAD), with only carbohydrate restriction.[7,9] Positive effects of dietary treatment on GLUT1DS symptoms have been described in case reports and series, but larger studies are lacking, putatively due to the rareness of GLUT1DS and absence of alternative therapies.[7,8] Combined with adherence difficulties, this might explain why not all GLUT1DS patients receive dietary treatment (worldwide registry: 77/181 [43%] of patients).[6] The current 25-year experience with dietary treatment for GLUT1DS allows extensive evaluation of treatment effects
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