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Year : 2018  |  Volume : 13  |  Issue : 4  |  Page : 496-499

Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene

Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna, Italy

Correspondence Address:
Dr. Tullio Messana
Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Via Altura N 3, Bologna 40139
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JPN.JPN_169_17

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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.


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