GLUCOSE TRANSPORTER TYPE I DEFICIENCY SYNDROME (GLUT 1 DS)

The article reviews literature devoted to the glucose transporter type I deficiency syndrome (synonyms: GLUT1 deficiency syndrome, de Vivo disease), that is a genetically determined disease caused by pathogenic variants of the SLC2A1 gene. The insufficiency of this protein leads to the disruption of glucose delivery to the brain through the blood-brain barrier. Clinically, the syndrome is manifested by epileptic seizures (mainly as absences or myoclonic seizures), various motor disorders and psychomotor retardation starting from the early age.Early diagnosis (including molecular genetic analysis of the SLC2A1 gene) enables us to start treatment and prevent progression of the symptoms, and to provide the family with genetic consultation on the prognosis and risks for the next generations. Ketogenic diet is an effective treatment option for this pathological condition, it can lead to a regression of the clinical manifestations, especially on the early stage.

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Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Epilepsia ◽

10.1111/j.1528-1167.2012.03592.x ◽

2012 ◽

Vol 53 (9) ◽

pp. 1503-1510 ◽

Cited By ~ 76

Author(s):

Amanda W. Pong ◽

Brianna R. Geary ◽

Kris M. Engelstad ◽

Ashwini Natarajan ◽

Hong Yang ◽

...

Keyword(s):

Glucose Transporter ◽

Deficiency Syndrome ◽

Type I

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Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler

Child Neurology Open ◽

10.1177/2329048x211034655 ◽

2021 ◽

Vol 8 ◽

pp. 2329048X2110346

Author(s):

Jennifer Kramer ◽

Lisa Smith

Keyword(s):

Life Cycle ◽

Ketogenic Diet ◽

Glucose Transporter ◽

Genetic Test ◽

Diet Therapy ◽

Deficiency Syndrome ◽

Close Monitoring ◽

Glut 1 ◽

Relative Rarity

A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.

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The neurological symptoms clinical diagnostics role in patients with genetic diseases

Modern medical technologies ◽

10.34287/mmt.2(41).2019.44 ◽

2019 ◽

Vol 41 part 3 (2) ◽

pp. 69-73

Author(s):

M. A. Trishchynskaya ◽

V. A. Svystilnyk

Keyword(s):

Behavior Disorders ◽

Clinical Characteristics ◽

Glucose Transporter ◽

Clinical Symptoms ◽

Genetic Diseases ◽

Deficiency Syndrome ◽

Clinical Diagnostics ◽

Neurological Symptoms ◽

Differential Diagnostics ◽

Type I

The purpose of the study. The aim of the publication was to make analysis neurological symptoms peculiarities in patients with the glucose transporter type I deficiency syndrome and to make differential diagnostics with other diseases. There are main clinical symptoms in the patients with glucose transporter type I deficiency syndrome. They include attacks of seizures, movement disorders: paresis, plegia, paroxysmal induced dyskinesias, ballismus, tremor, athetosis, dystonia, ataxia. The glucose transporter type I deficiency syndrome clinical characteristics have been added by the delays of the movement, cognitive development, behavior disorders, head ache. Hardness of the clinical symptoms may fluctuate during a day and depends from the period of eating. The plan for differentiation diagnostics and identification of the neurodegenerative diseases was presented in the article. Keywords:neurodegenerative diseases diagnostics, glucose transporter type I deficiency syndrome.

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Evaluating the Performance of METAglut-1 in Patients Whose Clinical Presentation is Compatible with the Glucose Transporter-1 Deficiency Syndrome (GLUT-1 DS)

10.1055/s-0039-1685429 ◽

2019 ◽

Author(s):

D. Gras ◽

O. Tanguy

Keyword(s):

Glucose Transporter ◽

Clinical Presentation ◽

Deficiency Syndrome ◽

Glucose Transporter 1 ◽

Glut 1

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Cerebellar Ataxia

Instant Neurological Diagnosis ◽

10.1093/med/9780199361953.003.0012 ◽

2016 ◽

pp. 333-346

Author(s):

Christopher H. Hawkes ◽

Kapil D. Sethi ◽

Thomas R. Swift

Keyword(s):

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Glucose Transporter ◽

Autosomal Dominant ◽

Coenzyme Q ◽

Deficiency Syndrome ◽

Type I ◽

Progressive Cerebellar Ataxia ◽

Cerebellar Gait Ataxia ◽

Inherited Ataxias

This chapter deals with disorders of the cerebellum and its connections. These conditions may be identified by the mode of onset—whether acute, subacute, chronic, or episodic. The chronic ataxias are inherited in various patterns: autosomal dominant; autosomal recessive; X-linked. Autosomal dominant inherited ataxias discussed include spinocerebellar ataxia, autosomal dominant episodic ataxia, and glucose transporter type I deficiency syndrome. Some episodic ataxias have variable inheritance. Other episodic ataxias without a clear genetic basis are detailed including mitochondrial spinocerebellar ataxia and epilepsy; coenzyme Q deficiency; progressive cerebellar ataxia with palatal tremor; and progressive cerebellar gait ataxia, myoclonic epilepsy, and intention tremor. Also various disorders associated with ataxia are enumerated.

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Epilepsy in de Vivo syndrome: a literature review and a clinical case

Epilepsia and paroxyzmal conditions ◽

10.17749/2077-8333.2019.11.3.270-277 ◽

2019 ◽

Vol 11 (3) ◽

pp. 270-277

Author(s):

M. B. Mironov ◽

N. I. Andreeva ◽

D. S. Fomchenkova ◽

N. V. Chebanenko ◽

Yu. V. Rubleva ◽

...

Keyword(s):

Cognitive Deficit ◽

Glucose Transporter ◽

Focal Epilepsy ◽

Epileptic Seizures ◽

Treatment Method ◽

Deficiency Syndrome ◽

Glut 1 ◽

Symptom Complex ◽

Transporter Deficiency ◽

Generalized Epilepsy

GLUT 1 transporter deficiency syndrome (De Vivo syndrome, GLUT 1 deficiency syndrome, De Vivo Disease) is a rare genetic disease associated with a deficiency of the glucose transporter GLUT 1. Due to this deficiency, diffusion of glucose through the blood-brain barrier is limited or completely blocked. As a result, a clinical symptom complex of neurological disorders – epileptic seizures, cognitive deficit, and motor disorders – develops. The article provides a review of the literature on the variety of epilepsy manifestations in this syndrome, including idiopathic generalized epilepsy with absences, myoclonic-astatic epilepsy, and focal epilepsy. The inability of the basic antiepileptic therapy to stop the seizures is noted. The main treatment method is the ketogenic diet. A clinical observation made by these authors is also presented.

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