Transport of glucose across the BBB is the responsibility of the GLUT1 transporter present in the membranes of the endothelial cells of the BBB. [themedicalbiochemistrypage.org]

Visual impairment was present due to the presence of both cataracts and retinal dysfunction. [ncbi.nlm.nih.gov]

We present an otherwise classical case of GLUT1-DS1 presenting at 6 wk of age with seizures. The infant had unexplained neutropenia during the months preceding molecular diagnosis. [content.iospress.com]

• Movement Disorder

  The cognitive impairment observed in childhood remains and movement disorders observed in those early years may progress to more significant mobility impairment. Movement disorders may also arise in adolescence and adulthood. [epilepsy.com]

  CONCLUSIONS: The modified Atkins diet is an effective and feasible alternative to the ketogenic diet for the treatment of GLUT1DS-related paroxysmal movement disorders in adolescence and adulthood. © 2013 International Parkinson and Movement Disorder [ncbi.nlm.nih.gov]

• Fatigue

  […] exercise-induced dystonia/dyskinesia (PED) early onset absence seizures before the age of 3 treatment resistant seizures/epilepsy at any age movement issues (ataxia, dystonia, chorea, tremor, gait abnormalities, and others) fluctuation of symptoms with hunger, fatigue [g1dfoundation.org]

  Secondary efficacy endpoints included: duration of disabling paroxysmal movement disorder events; walking capacity and endurance; patient-reported health-related quality of life assessments of physical function, mobility, upper extremity function, fatigue [ir.ultragenyx.com]

  Children must be strictly monitored when on the diet because too many ketones can trigger extreme fatigue and even coma in extreme cases. [dailymail.co.uk]

  These symptoms may fluctuate, and be influenced by fasting, exercise and/or fatigue. Children may have varying degrees of learning difficulties and speech delay. [epilepsy.org.uk]

• Pain

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

  The spinal tap is often the first step of evaluation, a procedure that can be painful and involves a certain amount of risk. [specialneedsalliance.org]

  […] efficacy endpoints included: duration of disabling paroxysmal movement disorder events; walking capacity and endurance; patient-reported health-related quality of life assessments of physical function, mobility, upper extremity function, fatigue and pain [ir.ultragenyx.com]

  Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). [checkorphan.org]

• Short Stature

  J Inher Metab Dis23(1)266,2000 A patient of short stature with normal GH secretion, but a low serum IGF-I level. [mori-kodomo.jp]

• Weight Gain

  Some side effects that can occur while on this diet include kidney stones, high cholesterol, dehydration, slow growth or weight gain and bone fractures. The long term effects of the ketogenic diet on the body are not known. [milestonesforchildren.org]

  Some side-effects that may occur while on this diet include high cholesterol, kidney stones, slow growth or weight gain, dehydration and bone fractures. The long-term effects of the ketogenic diet on a person's body remain unknown. [disabled-world.com]

• Yawning

  Various paroxysmal or episodic disorders have now been described in patients with GLUT1DS, including several seizure types, paroxysmal lethargy, autonomic attacks with sweating and yawning, hemiplegic migraine and eye movement disorders. [jnnp.bmj.com]

• Sweating

  Various paroxysmal or episodic disorders have now been described in patients with GLUT1DS, including several seizure types, paroxysmal lethargy, autonomic attacks with sweating and yawning, hemiplegic migraine and eye movement disorders. [jnnp.bmj.com]

• Fracture

  Some side effects that can occur while on this diet include kidney stones, high cholesterol, dehydration, slow growth or weight gain and bone fractures. The long term effects of the ketogenic diet on the body are not known. [milestonesforchildren.org]

  Some side-effects that may occur while on this diet include high cholesterol, kidney stones, slow growth or weight gain, dehydration and bone fractures. The long-term effects of the ketogenic diet on a person's body remain unknown. [disabled-world.com]

• Muscle Cramp

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

• Painful Muscle Cramps

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

• Myoclonus

  Movement disorders included dystonia, ataxia, myoclonus, and spasticity, either continuous or paroxysmal, triggered by action or exercise. Duration of treatment ranged from 3 months to 16 months. [ncbi.nlm.nih.gov]

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

  Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting). [ghr.nlm.nih.gov]

• Tremor

  Suggestive symptoms seen in many Glut1 Deficiency patients: paroxysmal exercise-induced dystonia/dyskinesia (PED) early onset absence seizures before the age of 3 treatment resistant seizures/epilepsy at any age movement issues (ataxia, dystonia, chorea, tremor [g1dfoundation.org]

  Gilbert directs the Movement Disorders and Tourette's Syndrome Clinics, which specialize in evaluation and pharmacologic treatment of tics, chorea, tremor, dystonia, stereotypies, ataxia, and other movement disorders http://www.cincinnatichildrens.org [books.google.com]

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

  No movement disorders were present (except for slight tremor after antiepileptic therapy start, probably a side effect of antiepileptic drugs), nor decrease of head circumference has been detected. [pediatricneurosciences.com]

  […] heterozygous mice. 24 Kim SK...De Vivo DC 22532550 2013 29 Opsoclonus-myoclonus syndrome. 24 Pike M 23622330 2013 30 Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. 24 Pong AW...De Vivo DC 22812641 2012 31 Dystonic tremor [malacards.org]

• Chorea

  Suggestive symptoms seen in many Glut1 Deficiency patients: paroxysmal exercise-induced dystonia/dyskinesia (PED) early onset absence seizures before the age of 3 treatment resistant seizures/epilepsy at any age movement issues (ataxia, dystonia, chorea [g1dfoundation.org]

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

  In addition to seizures, most individuals affected with Glut1 DS experience movement disorders including spasticity, ataxia, chorea and dystonia. [epilepsy.com]

  Some older children have intermittent ataxia (imbalance), confusion, lethargy, hemiparesis (weakness on one side), total body paralysis, and movement disorders (called chorea or athetosis). [epilepsy.org.uk]

• Stroke

  The patient presented as a code stroke with her second episode of acute-onset left hemiparesis and altered mental status. [ncbi.nlm.nih.gov]

  Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome Hilde M H Braakman 1, Marc Engelen 2, Joost Nicolai 1, 3, Michèl A A P Willemsen 4 1 Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht University [jnnp.bmj.com]

  There are many possible causes of epilepsy, including an imbalance of nerve-signaling chemicals called neurotransmitters, tumors, strokes, and brain damage from illness or injury, or some combination of these. [hopkinsmedicine.org]

  Research is supported by the Colleen Giblin Foundation, the National Institutes of Neurological Disorders and Stroke, patients, families and many generous benefactors whose constant support make our endeavors possible. [giblinlab.org]

  "Stroke-like episodes add to the phenotypic spectrum of GLUT1 deficiency syndrome". European Journal of Paediatric Neurology. 21 : e176. doi : 10.1016/j.ejpn.2017.04.995. ISSN 1090-3798. ^ Reference, Genetics Home. "GLUT1 deficiency syndrome". [en.wikipedia.org]

• Hyperreflexia

  […] deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysarthria Difficulty articulating speech 0001260 Extrapyramidal dyskinesia 0007308 Generalized hyperreflexia [rarediseases.info.nih.gov]

  He had lower limb spasticity and hyperreflexia, mild dysarthria, truncal ataxia, intention tremor, poor coordination, and difficulty carrying out complex motor tasks. [n.neurology.org]

OBJECTIVE: To determine the value of CSF analysis in the workup of GLUT1 deficiency syndrome. [ncbi.nlm.nih.gov]

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. Review. [ghr.nlm.nih.gov]

[…] absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 61 24 Larsen J...Moller RS 26537434 2015 3 Long-term clinical course of Glut1 deficiency syndrome. 61 24 Alter AS...De Vivo DC 24789115 2015 4 Cerebrospinal fluid analysis in the workup [malacards.org]

• Hypercholesterolemia

  Additional clinical features included nervousness and mood disturbances (depression), migraine and hypercholesterolemia. Fasting did not affect his clinical state. [hmg.oxfordjournals.org]

In particular, UX007 is proposed as an alternative treatment in patients who are not on, or not compliant with, a ketogenic diet. [epilepsy.com]

Their load of symptoms had decreased over the years, although that they never had received any treatment. Nevertheless, those who started dietary treatment all experienced an improved quality of life. [ncbi.nlm.nih.gov]

Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children. [ncbi.nlm.nih.gov]

"These factors were correlated in a predictive mathematical model designed to guide prognosis on the basis of clinical features at diagnosis," he added. [sciencedaily.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [checkorphan.org]

Affected individuals should talk to their physician and medical team about their specific clinical features, standard management and prognosis. [rarediseases.org]

Since early diagnosis and prompt implementation of the KD is believed to improve the long-term prognosis of patients with Glut1 DS, it is vital that neurologists recognize these episodes as an early diagnostic clue to the disease. [n.neurology.org]

Etiology In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Diagnostic methods Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid (CSF). [orpha.net]

Patients and their families are given the opportunity to participate in research on a cellular and clinical level so that advances can be made in understanding the etiology and clinical course of particular disease pathways. [giblinlab.org]

Moreover, diagnostic confirmation is either painfully invasive (spinal tap) or staggeringly expensive (genetic blood test). 1-2 Etiology and Pathophysiology In GLUT1 DS, the brain suffers from a paucity of glucose, a fuel which serves as the brain’s primary [raredr.com]

GLUT1-DS De Vivo disease Encephalopathy due to GLUT1 deficiency Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: G93.4 OMIM: 606777 UMLS: C1847501 MeSH: - GARD: 9265 MedDRA: - Summary Epidemiology [orpha.net]

Institute of Human Genetics, Jena, Germany (3) Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey References Birch HG, Richardson SA, Baird D, Horobin G, Ilsley R: Mental subnormality in the community: A clinical and epidemiological [molecularcytogenetics.biomedcentral.com]

The underlying pathophysiology for this phenomenon in GLUT1DS is not known, but may relate to cortical energy failure or abnormal cerebral microvasculature. [ncbi.nlm.nih.gov]

His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.com]

Moreover, diagnostic confirmation is either painfully invasive (spinal tap) or staggeringly expensive (genetic blood test). 1-2 Etiology and Pathophysiology In GLUT1 DS, the brain suffers from a paucity of glucose, a fuel which serves as the brain’s primary [raredr.com]

The pathophysiologic mechanism underlying paroxysmal eye–head gaze saccades in Glut1 DS is unknown. [n.neurology.org]

Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit [escholarship.umassmed.edu]

Through a combination of laboratory studies, natural history studies, and therapeutic trials, the goal of the Colleen Giblin Research Laboratories is to provide a scientific foundation for ultimately finding more effective treatments and preventive therapies [giblinlab.org]

Their blood, organs and bodies are carefully monitored by doctors to watch for and try to prevent possible issues caused by the diet. [disabled-world.com]

Glut1 Deficiency is a genetic disorder that prevents the proper transfer of glucose to the brain. Symptoms vary greatly and may include seizures, motor problems, developmental delays, learning disabilities and more. [specialneedsalliance.org]