New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch.
Study Goal
The researchers aimed to evaluate whether a low-glycemic-index diet combined with modified high amylopectin cornstarch could serve as an alternative treatment for glucose transporter 1 deficiency syndrome patients who struggle with compliance on the ketogenic diet.
Results Summary
The patient showed improvement in seizures and cognitive functions within the first 6 months of therapy, though compliance issues arose later. Neuropsychological assessment remained stable at 12 months, suggesting the diet was easier to apply than the ketogenic diet and maintained stable functioning.
Population
A single female patient with glucose transporter 1 deficiency syndrome (c.988C>T; p. Arg330X mutation in the SLC2A1 gene).
Effective Dosage
Modified high amylopectin cornstarch (Glycosade) at bedtime and low-glycemic-index diet with meals and snacks every 3-4 hours.
Duration
12 months
Interactions
None mentioned
| Intervention | Direction | Endpoint | Population | Dosage | Impact | Claim # |
|---|---|---|---|---|---|---|
modified high amylopectin cornstarch (Glycosade) and low glycemic index diet | decrease | seizures and cognitive functions | a new glucose transporter 1 deficiency syndrome patient | - | improved | #1 |
modified high amylopectin cornstarch (Glycosade) and low glycemic index diet | no change | neuropsychological assessment | a new glucose transporter 1 deficiency syndrome patient | 12 months of therapy | was stable | #2 |
modified high amylopectin cornstarch and low glycemic index diet | no change | neuropsychological functioning | this glucose transporter 1 deficiency syndrome patient | - | resulted in stable | #3 |
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.