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[Glucose transporter 1 deficiency syndrome: features of movement disorders, diagnosis and treatment]

Xin-Na Ji1, Cui-Juan Xu, Zhi-Jie Gao

  • 1Department of Neurology, Children's Hospital of Capital Institute of Pediatrics, Beijing 100020, China. chenqianxhl@163.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|March 14, 2018
PubMed

Insights

Glucose transporter 1 deficiency syndrome (GLUT1-DS) presents with movement disorders and seizures in children. A ketogenic diet effectively treats GLUT1-DS, leading to symptom remission.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder.
  • It affects glucose transport into the brain, leading to neurological symptoms.

Purpose of the Study:

  • To investigate the clinical features, diagnosis, and treatment of GLUT1-DS.
  • To evaluate the diagnostic significance of movement disorders in GLUT1-DS.
  • To assess the efficacy of the ketogenic diet in treating GLUT1-DS.

Main Methods:

  • Retrospective analysis of clinical data from four children diagnosed with GLUT1-DS.
  • Evaluation of clinical manifestations, diagnostic findings (cerebrospinal fluid glucose, SLC2A1 gene mutations), and treatment outcomes.
  • Assessment of response to a ketogenic diet with a 2:1 to 3:1 ratio.

Main Results:

  • All four children exhibited movement disorders (ataxia, dystonia, dysarthria), seizures, and developmental delay.
  • Reduced cerebrospinal fluid glucose levels and SLC2A1 gene mutations were confirmed in all patients.
  • A ketogenic diet resulted in complete remission of paroxysmal symptoms within 5 weeks.

Conclusions:

  • GLUT1-DS should be suspected in epileptic children with developmental delay and movement disorders.
  • The ketogenic diet, particularly at a 2:1 to 3:1 ratio, is an effective treatment for GLUT1-DS.
  • Movement disorders are key diagnostic indicators for GLUT1-DS.
Abstract

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