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GLUT1 Deficiency Syndrome

Glut-1 Deficiency Syndrome


Presentation

  • Visual impairment was present due to the presence of both cataracts and retinal dysfunction.[ncbi.nlm.nih.gov]
  • Affected individuals presented with spastic paraplegia as a predominant symptom, with epilepsy and intellectual disability, inherited as an autosomal dominant trait with variable clinical presentation.[ncbi.nlm.nih.gov]
  • She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded.[ncbi.nlm.nih.gov]
  • The patient presented as a code stroke with her second episode of acute-onset left hemiparesis and altered mental status.[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]
Turkish
  • 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]
Hyperreflexia
  • 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]
Babinski Sign
  • Tendon reflexes were brisk, and Babinski signs were present. Before starting the ketogenic diet, the child was having daily seizures, but within seven days after the diet was begun no further seizures were noted.[doi.org]
Spastic Gait
  • The majority of subjects exhibit some kind of gait disturbance which varies in severity from mild ataxia to a spastic gait and inhibition of independent walking ability.[epilepsy.com]
Altered Mental Status
  • The patient presented as a code stroke with her second episode of acute-onset left hemiparesis and altered mental status.[ncbi.nlm.nih.gov]

Workup

  • 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]

Treatment

  • 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]
  • 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]
  • First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS.[ncbi.nlm.nih.gov]
  • Novel ketogenic diets such as the modified Atkins diet and the low glycemic index treatment have significantly improved the therapeutic options for dietary treatment.[ncbi.nlm.nih.gov]
  • Early diagnosis and treatment were correlated with success. Copyright 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.[ncbi.nlm.nih.gov]

Prognosis

  • 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.[n.neurology.org]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • Their blood, bodies and organs are carefully monitored by doctors to watch for and try to prevent potential problems caused by the diet.[milestonesforchildren.org]

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