The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.
OBJECTIVE
The purpose of this study was to characterize patients who were diagnosed with glucose transporter protein 1 deficiency syndrome (Glut1D), and also to assess the efficacy of ketogenic diet (KD) therapy on seizure control, cognitive functions, and other neurological disorders.


METHODS
We studied six unrelated patients with the classical phenotype of Glut1D, focusing on clinical and laboratory features, the KD therapy and outcome over the 25-month follow-up period.


RESULTS
Five patients became seizure-free with the onset of ketosis, and anticonvulsants were discontinued. Other neurological features such as ataxia, spasticity, and dystonia showed a less striking improvement than seizure control. There was no significant change in the intelligence quotient (IQ) level or microcephaly. In all patients, alertness, concentration, motivation, and activity resulted in a moderate improvement of variable degree. The early-onset adverse effects of KD were observed in five patients. The KD regimen failed in one patient, therefore, his diet was changed with an alternative to KD.


CONCLUSIONS
Treatment with KD resulted in a marked improvement in seizures and cognitive functions but its effect appeared to be less striking on the other neurological disorders of the patients. When the classic KD is not tolerated, an alternative to KD may be helpful.
Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Hakan
H
Gumus
Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Ayşe Kaçar
AK
Bayram
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Fatih
F
Kardas
Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Mehmet
M
Canpolat
Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, United States.
Ahmet Okay
AO
Çağlayan
Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Sefer
S
Kumandas
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Mustafa
M
Kendirci
Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Huseyin
H
Per
D000293:Adolescent; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D001786:Blood Glucose; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy* / Q000235:genetics / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology*; D055423:Diet, Ketogenic; D005260:Female; D005500:Follow-Up Studies; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000235:genetics; D006801:Humans; D019344:Lactic Acid / Q000134:cerebrospinal fluid; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D020125:Mutation, Missense; D009483:Neuropsychological Tests; D010641:Phenotype; D012640:Seizures / Q000178:diet therapy* / Q000209:etiology; D016896:Treatment Outcome
D015415:Biomarkers; D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; D019344:Lactic Acid; D005947:Glucose