Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transport...
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doaj-b45565066a5b484f90ae557c6eaed7f52020-11-24T21:10:33ZengMDPI AGInternational Journal of Molecular Sciences1422-00672018-01-0119112210.3390/ijms19010122ijms19010122Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) DeficiencyArmond Daci0Adnan Bozalija1Fisnik Jashari2Shaip Krasniqi3Department of Pharmacy, Faculty of Medicine, University of Prishtina, Prishtina 10000, KosovoDepartment of Pharmacy, Faculty of Medicine, University of Prishtina, Prishtina 10000, KosovoDepartment of Neurology, University Clinical Center of Kosovo, Prishtina 10000, KosovoInstitute of Pharmacology and Toxicology, Faculty of Medicine, University of Prishtina, Prishtina 10000, KosovoMonogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches.http://www.mdpi.com/1422-0067/19/1/122glucose transporter type-1 deficiencySLC2A1epilepsypharmacogenomicdiet |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Armond Daci Adnan Bozalija Fisnik Jashari Shaip Krasniqi |
spellingShingle |
Armond Daci Adnan Bozalija Fisnik Jashari Shaip Krasniqi Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency International Journal of Molecular Sciences glucose transporter type-1 deficiency SLC2A1 epilepsy pharmacogenomic diet |
author_facet |
Armond Daci Adnan Bozalija Fisnik Jashari Shaip Krasniqi |
author_sort |
Armond Daci |
title |
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency |
title_short |
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency |
title_full |
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency |
title_fullStr |
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency |
title_full_unstemmed |
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency |
title_sort |
individualizing treatment approaches for epileptic patients with glucose transporter type1 (glut-1) deficiency |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2018-01-01 |
description |
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches. |
topic |
glucose transporter type-1 deficiency SLC2A1 epilepsy pharmacogenomic diet |
url |
http://www.mdpi.com/1422-0067/19/1/122 |
work_keys_str_mv |
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1716756084510687232 |