Clinical Variability of GLUT1DS

Melnikova, Anastasia Martinez-Esteve; Korff, Christian

doi:10.15844/pedneurbriefs-29-2-5

Cited by 2 publications

(5 citation statements)

References 7 publications

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“…However, the patients with the same mutation could show phenotypic variety, suggesting that other genes or other proteins are involved in glucose transport, pathophysiology of the disease and phenotype. It raises the unsolved question on the real incidence of GLUT1 DS, treatment with ketogenic diet in milder forms of disease and concerns about genetic counseling 19,20 .…”

Section: Discussionmentioning

confidence: 99%

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

Ivančević

Cerovac

Nikolić

et al. 2019

VSP

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Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The "classic" phenotype in children includes early onset generalized farmacoresistant epilepsy, developmental delay, complex movement disorders and acquired microcephaly. However, there are milder phenotypes without epilepsy which could be seen in older children. The ketogenic diet is a treatment of choice. Case report. We present a four-yearold female patient with farmacoresistant generalized epilepsy, paroxysmal dystonic posturing, ataxia, hypotonia, developmental delay (motor, attention and speech disturbances), and microcephaly. The genetic testing revealed a novel point mutation at c.156T > A (p.Y52X) in exon 3 of SLC2A1 gene. The patient responded excellent on ketogenic diet. Conclusion. GLUT1 DS is treatable, and likely to be under-diagnosed neurological disorder. The ketogenic diet is resulting in good control of seizures in the patients, and it has certain benefit for the neurodevelopmental disability.

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Section: Discussionmentioning

confidence: 99%

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

Ivančević

Cerovac

Nikolić

et al. 2019

VSP

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“…Human pathology associated with GLUT-1 was first described by Darryl De Vivo, who more than 3 decades ago reported two cases of GLUT-1 deficiency syndrome (GLUT-1 DS) (3)(4)(5)(6)(7). This syndrome was characterized clinically by infantile seizures, developmental delay and acquired microcephaly, accompanied by laboratory findings of low cerebrospinal fluid (CSF) glucose -hypoglycorrhachia, normal plasma glucose levels, low CSF-to-plasma glucose ratio and low-to-normal cerebrospinal lactate levels (3)(4)(5)(6)(7).…”

Section: The Classical De Vivo Glut-1 Deficiency Syndrome (Glut-1 Ds)mentioning

confidence: 99%

“…This syndrome was characterized clinically by infantile seizures, developmental delay and acquired microcephaly, accompanied by laboratory findings of low cerebrospinal fluid (CSF) glucose -hypoglycorrhachia, normal plasma glucose levels, low CSF-to-plasma glucose ratio and low-to-normal cerebrospinal lactate levels (3)(4)(5)(6)(7).…”

Section: The Classical De Vivo Glut-1 Deficiency Syndrome (Glut-1 Ds)mentioning

confidence: 99%

“…Firstly, while GLUT-1 deficiency was initially considered to be a rare genetic condition (GLUT-1 DS) it is now clear that this pathophysiological mechanism underlies a few more common clinical entities, such as PED, early-onset absence epilepsy, idiopathic generalised epilepsy and perhaps others (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). The classical and rare De Vivo GLUT-1 DS comprises the severe end of the GLUT-1 deficiency spectrum that includes patients with a significant reduction in GLUT-1 glucose transport function (40-75%), whereas the non-classical milder forms (intermittent neurologic phenomena, such as PED, epilepsy) arise when mutations lead to milder reduction in glucose transport function (20-35%) (1).…”

Section: Glut-1 Deficiency: From Pathophysilogy and Genetics To Abroamentioning

confidence: 99%

“…It is estimated that on average an adult human brain uses at least 20-25% (up to 80% in infants) of the total body glucose supply (1)(2)(3)(4)(5)(6)(7). Glucose molecule does not diffuse freely across the blood-brain barrier and GLUT-1, an uniporter glucose transporter, allows facilitated glucose transport across the blood-brain (and other blood-tissue) barriers (1,2).…”

Section: Introductionmentioning

confidence: 99%

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GLUT-1 deficiency: From pathophysilogy and genetics to abroad clinical spectrum

Arsov

2016

SANAMED

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Abstract:The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease) was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy) and movement disorders. The biochemical parameters of this disease, used in diagnosis, are low levels of glucose in the cerebrospinal fluid, normal level of glucose in the blood and consequent low ratio of cerebrospinal fluid vs. blood glucose levels (< 40-45%). So far, more than 200 cases of the classical GLUT-1 DS have been described in the literature. Genetic research demonstrated that this disease is caused by mutations in SLC2A1 gene coding for GLUT-1, a transporter of glucose across the blood brain barrier. Over the last few years the clinical spectrum of GLUT-1 deficiency was expanded to include other rare diseases such as paroxysmal exertional dyskinesia and early-onset absence epilepsy, but also some more common diseases such as idiopathic generalised epilepsy (1-2%). GLUT-1 deficiency is an important pathophysiological basis of these diseases as early diagnosis (aided by DNA mutation testing) and treatment (ketogenic diet) could lead to improved disease outcomes.

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Clinical Variability of GLUT1DS

Abstract: Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).

Cited by 2 publications

References 7 publications

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

GLUT-1 deficiency: From pathophysilogy and genetics to abroad clinical spectrum

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