Symptoma

GLUT1 Deficiency Syndrome

Glut-1 Deficiency Syndrome

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

Genetic counseling GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease. [orpha.net]

  • Shivering

    Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. [ncbi.nlm.nih.gov]

  • Distractibility

    The patient was restless, distractible, and impulsive, but cooperative and able to follow simple instructions. [doi.org]

  • Hyperreflexia

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

  • Poor Coordination

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

  • Dysmetria

    Examination at age 10 years revealed a head circumference at the 25th percentile, lower limb spasticity, and cerebellar dysfunction with dysarthria, limb dysmetria, and a mixed spastic-ataxic gait. [doi.org]

  • Ocular Flutter

    The episodes we observed can also be distinguished from other eye movement disorders that may occur in infancy, including infantile nystagmus, ocular flutter, and spasmus nutans. [doi.org]

  • Gait Ataxia

    Other associated findings included progressive spastic paraparesis with onset in early adulthood, mild gait ataxia, mild-to-moderate cognitive impairment, and epileptic seizures. [ncbi.nlm.nih.gov]

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]

While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. [ncbi.nlm.nih.gov]

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

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]

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

"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]

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. [doi.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]

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]

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]

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. [doi.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]

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]

Prevention of primary manifestations: Early diagnosis and treatment with a ketogenic diet is associated with improved neurologic outcome. [ncbi.nlm.nih.gov]