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Scientific paper - Original scientific paper
GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
Genes, 12 (2021), 9; 1379. https://doi.org/10.3390/genes12091379
Kolić, Ivana; Radić Nišević, Jelena; Vlašić Cicvarić, Inge; Butorac Ahel, Ivona; Lah Tomulić, Kristina; Šegulja, Silvije; Baraba Dekanić, Kristina; Serifi, Senada; Ovuka, Aleksandar; Prpić, Igor

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Kolić, I., Radić Nišević, J., Vlašić Cicvarić, I., Butorac Ahel, I., Lah Tomulić, K., Šegulja, S. ... Prpić, I. (2021). GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report). Genes, 12. (9). doi: 10.3390/genes12091379

Kolić, Ivana, et al. "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)." Genes, vol. 12, no. 9, 2021. https://doi.org/10.3390/genes12091379

Kolić, Ivana, Jelena Radić Nišević, Inge Vlašić Cicvarić, Ivona Butorac Ahel, Kristina Lah Tomulić, Silvije Šegulja, Kristina Baraba Dekanić, Senada Serifi, Aleksandar Ovuka and Igor Prpić. "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)." Genes 12, no. 9 (2021). https://doi.org/10.3390/genes12091379

Kolić, I., et al. (2021) 'GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)', Genes, 12(9). doi: 10.3390/genes12091379

Kolić I, Radić Nišević J, Vlašić Cicvarić I, Butorac Ahel I, Lah Tomulić K, Šegulja S, and sur.. GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report). Genes [Internet]. 2021 August 31 [cited 2024 December 24];12(9). doi: 10.3390/genes12091379

I. Kolić, et al., "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)", Genes, vol. 12, no. 9, August 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:247353. [Accessed: 24 December 2024]

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Metadata
Title (english)GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
AuthorIvana Kolić
AuthorJelena Radić Nišević
AuthorInge Vlašić Cicvarić
AuthorIvona Butorac Ahel
AuthorKristina Lah Tomulić
AuthorSilvije Šegulja
AuthorKristina Baraba Dekanić
AuthorSenada Serifi
AuthorAleksandar Ovuka
AuthorIgor Prpić
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (english)
Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various paroxysmal neurological phenomena. In most cases, GLUT1DS is caused by heterozygous single-nucleotide variants (SNVs) in the SLC2A1 gene that provoke complete or severe impairment of the functionality and/or expression of GLUT1 in the brain. Despite the rarity of these diseases, GLUT1DS is of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms, especially if it is started as early as possible. We present a clinical phenotype, biochemical analysis, electroencephalographic and neuropsychological features of an 11-month-old boy with myoclonic seizures, hypogammaglobulinemia, and mildly impaired gross motor development. Using sequence analysis and deletion/duplication testing, deletion of an entire coding sequence in the SLC2A1 gene was detected. Early introduction of a modified Atkins diet maintained a seizure-free period without antiseizure medications and normal cognitive development in the follow-up period. Our report summarizes the clinical features of GLUT1 syndromes and discusses the importance of early identification and molecular confirmation of GLUT1DS as a treatable metabolic disorder.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleGenes
Numberingvol. 12, no. 9, 1379
e-ISSN2073-4425
DOIhttps://doi.org/10.3390/genes12091379
URN:NBNurn:nbn:hr:184:247353
Publication2021-08-31
Document URLhttps://www.mdpi.com/2073-4425/12/9/1379
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-03-22 16:26:29