Aim: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a metabolic encephalopathy that can be effectively treated with a ketogenic diet. The aim of this study was to consolidate the effectiveness of the modified Atkins diet (MAD) as an alternative treatment for GLUT1-DS.
Method: Six Japanese males with GLUT1-DS were selected for treatment with the MAD. Their age at the time the MAD was instituted ranged from 7 to 16 years and the duration of treatment ranged from 1 to 42 months. All participants had early-onset epilepsy. Each participant's neuropsychological activity, seizure frequency, neurological status, and electroencephalographic (EEG) findings were compared before and after the introduction of the MAD.
Results: After initiation of the treatment, all individuals showed +2 to +3 urinary ketosis on a ketostick test check. Epileptic seizures and other paroxysmal events decreased markedly in all individuals. Interictal EEG showed improvement in the background activity and disappearance of epileptic discharges. Along with an increased vigilance level, improvement in motivation and cognitive function was also achieved. Non-paroxysmal permanent ataxia, spasticity, dysarthria, and dystonia were moderately improved in four individuals and slightly improved in the remaining two. Preprandial transient aggravation of neurological symptoms completely disappeared in all participants. There were no significant side effects.
Interpretation: For the treatment of GLUT1-DS, the MAD is less restrictive, more palatable, and easier to maintain than the conventional ketogenic diet, but its effectiveness was similar. Thus, MAD treatment is promising for individuals with GLUT1-DS and their families.
© The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.