Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.
OBJECTIVE
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using the modified Atkins diet (MAD). We aimed to assess the efficacy of MAD as a treatment for GLUT1-DS.


METHODS
We evaluated the efficacy of MAD in 10 patients (four males, six females; mean age at diagnosis [SD] 6.2y [1.7], min-max: 4mo-12y) with GLUT1-DS.


RESULTS
MAD was started at diagnosis in eight patients, including two infants. The mean duration (SD) under MAD was 2.5 [0.6] years (range 6mo-6y). Seven patients with epilepsy started MAD at GLUT1-DS diagnosis, and all experienced improvements in their epilepsy: five out of seven were seizure-free at M1, and three out of six at M3 and M6. The initiation of MAD allowed symptoms to be controlled in the three patients with movement disorders but without seizures. Two patients switched from the ketogenic diet to MAD. This switch was not responsible for the recurrence of any symptoms, and led to improvements in both physical abilities and growth parameters.


CONCLUSIONS
MAD, which is a less restrictive and more palatable diet than the ketogenic diet, seems to have comparable effectiveness. Moreover, a switch from the ketogenic diet to MAD appears to be beneficial for patients with GLUT1-DS.
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Sofiane
S
Amalou
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Domitille
D
Gras
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Adina
A
Ilea
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Marie-Odile
MO
Greneche
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Laurent
L
Francois
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.
Vanina
V
Bellavoine
Service de Explorations Fonctionnelles, AP-HP, Hôpital Robert Debré, Paris, France.
Catherine
C
Delanoe
Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France. stephane.auvin@inserm.fr.|INSERM U1141, Paris, France. stephane.auvin@inserm.fr.|Sorbonne Paris Cité, INSERM UMR1141, Université Paris Diderot, Paris, France. stephane.auvin@inserm.fr.
Stéphane
S
Auvin
D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy*; D002648:Child; D002675:Child, Preschool; D050528:Diet, Carbohydrate-Restricted / Q000379:methods*; D055423:Diet, Ketogenic / Q000379:methods; D004827:Epilepsy / Q000178:diet therapy* / Q000209:etiology; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D009069:Movement Disorders / Q000178:diet therapy* / Q000209:etiology; D017063:Outcome Assessment, Health Care; D012189:Retrospective Studies
D009004:Monosaccharide Transport Proteins