GLUT1 deficiency syndrome (De Vivo disease): clinical and genetics aspects

This article describes 4 clinical cases of glucose transporter type 1 deficiency syndrome (GLUT1, De Vivo disease) in children admitted to the neuropsychiatric department of Scientific and Practical Center of children medical care. The drug-resistant epilepsy, movement disorders, psychomotor and intellectual disabilities, decrease of glucose levels in the cerebrospinal fluid (CSF) were diagnosed in children. The different types of mutations in the SLC2A1 gene, responded for the development of GLUT1 deficiency syndrome were detected by targeted sequencing in all patients. De Vivo disease is characterized by the infantile-onset encephalopathy, symptomatic drug-resistant epilepsy, microcephaly, delayed psychomotor development with spasticity, ataxia, dysarthria and alternating hemiplegia and decrease the level of glucose in the CSF. Currently, the ketogenic diet is highly effective method of pathogenesis therapy, which can reduce the clinical manifestations: controlling the seizures, improving the movement disorder and speech.

синдром дефицита GLUT1, эпилепсия, альтернирующая гемиплегия, дизартрия, микроцефалия, таргетное секвенирование, GLUT1 deficiency syndrome, epilepsy, alternating hemiplegia, dysarthria, microcephaly, targeted sequencing

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