Abstract
Objective
Glucose transporter 1 deficiency syndrome is an autosomal, dominantly inherited neurometabolic
disorder caused by mutations in the SLC2A1 gene. Decreased glucose transport into the brain results in seizures and cognitive
dysfunction. The ketogenic diet is the treatment of choice, but complicated with compliance
problems. Stabilization of blood glucose levels by low glycemic index diet and modified
high amylopectin cornstarch would provide steady-state glucose transport into the
brain to prevent seizures and cognitive dysfunction in patients with glucose transporter
1 deficiency syndrome as an alternative treatment.
Patient
We report a new glucose transporter 1 deficiency syndrome patient (c.988C>T; p. Arg330X
in the SLC2A1) treated with modified high amylopectin cornstarch (Glycosade) and low glycemic index
diet because of compliance problems with the ketogenic diet. She was diagnosed at
11.5 years of age and was treated with the ketogenic diet between ages 12 and 18 years.
Results
She was started on modified high amylopectin cornstarch at bedtime and low glycemic
index diet with meals and snacks every 3-4 hours. Within the first 6 months of therapy,
she improved in her seizures and cognitive functions, but experienced compliance problems
afterwards. Neuropsychological assessment was stable at 12 months of therapy.
Conclusion
This diet was easy to apply compared with the ketogenic diet and resulted in stable
neuropsychological functioning of this glucose transporter 1 deficiency syndrome patient.
Modified high amylopectin cornstarch and low glycemic index diet might be an alternative
treatment in glucose transporter 1 deficiency syndrome patients with compliance problems
to the ketogenic diet treatment, but additional patients should be treated to prove
usefulness of this new treatment.
Keywords
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Article info
Publication history
Published online: June 26, 2015
Accepted:
June 19,
2015
Received:
April 24,
2015
Identification
Copyright
© 2015 Published by Elsevier Inc. All rights reserved.
