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GLUT1 deficiency with delayed myelination responding to ketogenic diet.
- Source :
-
Pediatric neurology [Pediatr Neurol] 2007 Aug; Vol. 37 (2), pp. 130-3. - Publication Year :
- 2007
-
Abstract
- 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.
- Subjects :
- Child, Preschool
Dietary Fats administration & dosage
Humans
Ketone Bodies metabolism
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Myelin Sheath metabolism
Ataxia diet therapy
Ataxia metabolism
Ataxia pathology
Developmental Disabilities diet therapy
Developmental Disabilities metabolism
Developmental Disabilities pathology
Diet, Carbohydrate-Restricted
Glucose Transporter Type 1 deficiency
Myelin Sheath pathology
Subjects
Details
- Language :
- English
- ISSN :
- 0887-8994
- Volume :
- 37
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Pediatric neurology
- Publication Type :
- Academic Journal
- Accession number :
- 17675029
- Full Text :
- https://doi.org/10.1016/j.pediatrneurol.2007.03.009