GLUT1 deficiency with delayed myelination responding to ketogenic diet.
Monitoring effects of a ketogenic diet in GLUT1 deficiency syndrome without seizures is difficult. Neuroimaging is considered uninformative. We report the case of a boy with neurodevelopmental delay, severe ataxia, an E54X-mutation in the SLC2A1 gene (previously GLUT1), and neuroimaging abnormalities indicative of delayed myelination. Six months on a ketogenic diet resulted in an improved high subcortical white matter signal on T2-weighted images and a reduced N-acetylaspartate/creatine ratio. We conclude that delayed subcortical myelination may occur in GLUT1 deficiency syndrome as a nonspecific finding reflecting developmental delay. In patients without seizures, cranial magnetic resonance imaging and magnetic resonance spectroscopy may prove useful tools to monitor the response to a ketogenic diet.
Children's Hospital Aschaffenburg, Aschaffenburg, Germany, and Department of Human Genetics, University Medical Center Nijmegen, The Netherlands. joerg.klepper@klinikum-aschaffenburg.de
Jörg
J
Klepper
Volkher
V
Engelbrecht
Hans
H
Scheffer
Marjo S
MS
van der Knaap
Andreas
A
Fiedler
D001259:Ataxia / Q000178:diet therapy / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000178:diet therapy / Q000378:metabolism / Q000473:pathology; D050528:Diet, Carbohydrate-Restricted; D004041:Dietary Fats / Q000008:administration & dosage; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006801:Humans; D007657:Ketone Bodies / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009186:Myelin Sheath / Q000378:metabolism / Q000473:pathology*
D004041:Dietary Fats; D051272:Glucose Transporter Type 1; D007657:Ketone Bodies; C495677:SLC2A1 protein, human