Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
BACKGROUND
GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder. A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism.


METHODS
Fifteen children with GLUT1 deficiency syndrome were enrolled prospectively for a 2.0 - 5.5-year follow-up of the effectiveness of a 3 : 1 LCT ketogenic diet. Eight patients enrolled were described previously, seven patients were novel.


RESULTS
Four novel heterozygous GLUT1 mutations were identified. 10/15 patients remained seizure-free on the ketogenic diet in monotherapy. In 2/15 patients seizures recurred after 2(1/2) years despite adequate ketosis, but were controlled by add-on ethosuximide. In one patient seizures were reduced without complete seizure control. No serious adverse effects occurred and parental satisfaction with the diet was good. 2/15 patients discontinued the diet.


CONCLUSIONS
GLUT1 deficiency syndrome represents a complex childhood encephalopathy that can be treated effectively by means of a ketogenic diet. The response to the diet did not correlate to clinical, biochemical, or genetic features of the disease. In contrast to previous reports, our results indicate that epilepsy is not always completely controlled by a ketogenic diet and can recur in a subset of patients.
Klepper
J
J
Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany. joerg.klepper@uni-essen.de
Scheffer
H
H
Leiendecker
B
B
Gertsen
E
E
Binder
S
S
Leferink
M
M
Hertzberg
C
C
Näke
A
A
Voit
T
T
Willemsen
M A
MA
D000293:Adolescent; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000178:diet therapy* / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007657:Ketone Bodies / Q000096:biosynthesis / Q000627:therapeutic use*; D008297:Male; D011446:Prospective Studies; D012640:Seizures / Q000178:diet therapy* / Q000209:etiology / Q000503:physiopathology; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome
D051272:Glucose Transporter Type 1; D007657:Ketone Bodies; D005947:Glucose