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Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene.
- Source :
- Journal of Pediatric Neurosciences; Oct-Dec2018, Vol. 13 Issue 4, p496-499, 4p
- Publication Year :
- 2018
-
Abstract
- Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood–brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (SLC2A1), encoding the transporter protein. We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 18171745
- Volume :
- 13
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Journal of Pediatric Neurosciences
- Publication Type :
- Academic Journal
- Accession number :
- 135016172
- Full Text :
- https://doi.org/10.4103/JPN.JPN_169_17