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- Title
Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene.
- Authors
Messana, Tullio; Russo, Angelo; Vergaro, Raffaella; Boni, Antonella; Santucci, Margherita; Pini, Antonella
- 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.
- Subjects
SPASMS; SEIZURES (Medicine); ATAXIA; AGE factors in disease; CARRIER proteins; DEVELOPMENTAL disabilities; KETOGENIC diet; PEOPLE with intellectual disabilities; MICROCEPHALY; GENETIC mutation; GLUCOSE transporter 1 deficiency syndrome; SYMPTOMS; PREVENTION
- Publication
Journal of Pediatric Neurosciences, 2018, Vol 13, Issue 4, p496
- ISSN
1817-1745
- Publication type
Article
- DOI
10.4103/JPN.JPN_169_17