Glucose transporter 1 deficiency syndrome: features of movement disorders, diagnosis and treatment / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 209-213, 2018.
Article
in Zh
| WPRIM
| ID: wpr-300362
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders.</p><p><b>METHODS</b>The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed.</p><p><b>RESULTS</b>There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation. Seizures were the cause of the first consultation in all cases. The four children all had persistent ataxia, dystonia, and dysarthria; two had persistent tremor, two had paroxysmal limb paralysis, and two had eye movement disorders. Paroxysmal symptoms tended to occur in fatigue state. All four children had reductions in the level of cerebrospinal fluid glucose and its ratio to blood glucose, as well as SLC2A1 gene mutations. The four children were given a ketogenic diet, at a ketogenic ratio of 2:1 to 3:1, and achieved complete remission of paroxysmal symptoms within 5 weeks.</p><p><b>CONCLUSIONS</b>GLUT1-DS should be considered for epileptic children with mental retardation and motor developmental delay complicated by various types of movement disorders. The ketogenic diet is effective at a ketogenic ratio of 2:1 to 3:1 for the treatment of GLUT1-DS.</p>
Full text:
1
Index:
WPRIM
Main subject:
Therapeutics
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Monosaccharide Transport Proteins
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Carbohydrate Metabolism, Inborn Errors
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Diagnosis
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Genetics
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Movement Disorders
Type of study:
Diagnostic_studies
Limits:
Child
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Child, preschool
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2018
Type:
Article