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]

• Cyanosis

  […] stiffness, contraction, or spasm 0001257 Status epilepticus Repeated seizures without recovery between them 0002133 30%-79% of people have these symptoms Choreoathetosis 0001266 Confusion Disorientation Easily confused Mental disorientation [ more ] 0001289 Cyanosis [rarediseases.info.nih.gov]

  Cyanosis and jaundice at the birth were reported; jaundice was treated by phototherapy and exsanguinotransfusion. He had a bilateral nuclear congenital cataract. Height and weight growth were normal. [pediatricneurosciences.com]

• Muscle Spasticity

  Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). [ghr.nlm.nih.gov]

• Psychomotor Retardation

  Patients may also develop psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals and resolving after ingestion of glucose rich meals. [treatable-id.org]

  retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. [orpha.net]

  There was a mild, global delay of psychomotor development. At the age of 4 years 1 month, EEG tracing during wakefulness, performed due to the psychomotor retardation, was normal. [pediatricneurosciences.com]

• Ataxia

  The KDs were effective on seizures (80%), aggravation after fasting (80%) and ataxia (79%). Thus, ataxia was as responsive as seizures. Two patients on the classic KD with a ketogenic ratio as low as 1:1 showed improvement in neurological symptoms. [ncbi.nlm.nih.gov]

  Based on the clinical diagnosis of episodic ataxia type 2, treatment with acetazolamide was initiated. Subsequently a significant improvement of cognitive performance and ataxia was observed. [thieme-connect.com]

  A complex movement disorder is also evident that includes elements of ataxia, dystonia, and spasticity. Other paroxysmal findings include confusion, lethargy, and sleep disturbance. [themedicalbiochemistrypage.org]

• Dystonia

  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]

  However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating hemiplegia, and other paroxysmal events, such as intermittent ataxia, dystonia [ncbi.nlm.nih.gov]

  A complex movement disorder is also evident that includes elements of ataxia, dystonia, and spasticity. Other paroxysmal findings include confusion, lethargy, and sleep disturbance. [themedicalbiochemistrypage.org]

  These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. [ghr.nlm.nih.gov]

• Headache

  Seizures, usually characterised by apnoeic episodes, staring spells and episodic eye movements, begin shortly after birth; other findings include intermittent ataxia, confusion, lethargy, sleep disturbance and headache. [medical-dictionary.thefreedictionary.com]

  Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. [uniprot.org]

  […] symptoms worse just after waking in the morning symptom improvement after eating opsoclonus-like eye/head movements in first two years of life (aberrant gaze saccades) paroxysmal neurological symptoms (seizures, movement disturbances, hemiplegia episodes, headaches [g1dfoundation.org]

  From the age of about 4 years he has suffered from headache several times monthly, sometimes associated with nausea and vomiting, treated with paracetamol. [pediatricneurosciences.com]

  […] size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i.e. involuntary eye movements, spasticity, ataxia, dystonia ) Behavioral problems Other signs and symptoms may include headaches [rarediseases.info.nih.gov]

• 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]

• 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]

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]

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]