Clinical and Molecular Genetic Diagnosis of Glucose Transporter Deficiency Syndrome Type I in Patients of Neuropsychiatric Department

Кожанова, Т. В.; Жилина, С. С.; Mescheryakova, T. I.; Ayvazyan, S. O.; Осипова, К. В.; Sushko, L. M.; Lukyanova, E. G.; Pyryeva, E. A.; Притыко, А. Г.

doi:10.24110/0031-403x-2017-96-1-156-164

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“…The mutation is not registered in the control samples of "1000 genomes", ESP6500 and ExAC. Algorithms for predicting pathogenicity regard this substitution as pathogenic [32].…”

Section: Methods Of Researchmentioning

confidence: 99%

“…The type of inheritance is autosomal-dominant, the risk of transmitting a pathogenic mutation from parents to the child is 50%. When a mutation in SLC2A1 gene is detected in a proband, it is recommended to subject the parents to moleculargenetic testing, as parents may have a subclinical form of the disease [32]. The above medical cases show availability of KD in treatment of patients with such a rare and severe hereditary disease as glucose transporter type 1 deficiency syndrome (GLUT1) Table 1.…”

Section: Global Journal Of Intellectual and Developmental Disabilitiesmentioning

confidence: 99%

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Glucose Transporter Type 1 Deficiency Syndrome (Gluti) and Using Ketogenic Diet in Treatment of de Vivo Disease (A Case Reports)

2017

GJIDD

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We present experience of ketogenic diet (KD) applying in the treatment of pharmacoresistant epilepsy in a patients with glucose transporter deficiency syndrome type I (GLUT1). We observed six children with refractory epilepsy due to GLUT1. The high effectiveness of KD in the treatment of GLUT1 was demonstrated. All patients were achieved complete absence of seizures and EEG abnormalities from the beginning of KD. We noticed positive shift in cognitive and speech development for all children. Antiepileptic drugs were stopped taking due to the stable remission. There was a further positive dynamics in intelligence, psycho-emotional sphere; the children began to go a nursery school and a special school. Thus, the ketogenic diet is high effectiveness and, perhaps, the only method for GLUT1 treatment.

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“…The mutation is not registered in the control samples of "1000 genomes", ESP6500 and ExAC. Algorithms for predicting pathogenicity regard this substitution as pathogenic [32].…”

Section: Methods Of Researchmentioning

confidence: 99%

Section: Global Journal Of Intellectual and Developmental Disabilitiesmentioning

confidence: 99%

Glucose Transporter Type 1 Deficiency Syndrome (Gluti) and Using Ketogenic Diet in Treatment of de Vivo Disease (A Case Reports)

2017

GJIDD

View full text Add to dashboard Cite

show abstract

Clinical and Molecular Genetic Diagnosis of Glucose Transporter Deficiency Syndrome Type I in Patients of Neuropsychiatric Department

Cited by 1 publication

References 0 publications

Glucose Transporter Type 1 Deficiency Syndrome (Gluti) and Using Ketogenic Diet in Treatment of de Vivo Disease (A Case Reports)

Glucose Transporter Type 1 Deficiency Syndrome (Gluti) and Using Ketogenic Diet in Treatment of de Vivo Disease (A Case Reports)

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