Abstract
Objectives
To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport
type 1 deficiency syndrome (GLUT1DS) in Japan.
Methods
A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified
pediatric neurologists nationwide to obtain clinical and laboratory data.
Results
Among 39 patients whose diagnosis was confirmed molecularly or by the 3-O-methylglucose uptake assay, 31 were treated with KDs for longer than 1 month. Seventeen patients (55%) were on the modified Atkins diet, 11 (35%) were on
the classic KD, and 3 were on the medium-chain triglyceride (MCT) diet. The median
values and ranges of serum β-hydroxybutyrate levels in patients on the modified Atkins
diet, classic KD and MCT diet were 2.5 mM (0.75–4.1), 1.7 mM (0.23–3.5) and 2.6 mM (1.5–3.0), respectively. The KDs were effective on seizures (80%), aggravation
after fasting (80%) and ataxia (79%). Thus, ataxia was as responsive as seizures.
Two patients on the classic KD with a ketogenic ratio as low as 1:1 showed improvement
in neurological symptoms. The development or intelligence quotient measured using
the same psychological scales before and after the KDs in 9 patients did not show
a significant improvement; the median quotients before and after the diets were 40
(12–91) and 46 (12–67).
Conclusion
The KDs were most effective on seizures, transient aggravation after fasting and ataxia.
The efficacy on intellectual development was equivocal. The modified Atkins diet was
more commonly used for GLUT1DS in this study, and its ketogenicity was equivalent
to the classic KD.
Keywords
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Article info
Publication history
Published online: February 25, 2016
Accepted:
January 5,
2016
Received in revised form:
January 5,
2016
Received:
October 2,
2015
Identification
Copyright
© 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
