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Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features
Hyuna Kim1,2, Jin Sook Lee3, Youngha Lee4
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yonsei Medical Journal
|November 27, 2019
Summary
Glucose transporter type 1 deficiency (GLUT1-DS) is a treatable neurometabolic disorder. Early diagnosis of GLUT1-DS, characterized by varied symptoms like seizures and movement issues, is crucial for effective ketogenic diet treatment.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Glucose transporter type 1 deficiency (GLUT1-DS) is a rare neurometabolic disorder.
- It is often underdiagnosed due to nonspecific, evolving, and overlapping symptoms.
- Early diagnosis and treatment with ketogenic diet can significantly improve patient outcomes.
Purpose of the Study:
- To review the clinical course and diagnostic challenges of GLUT1-DS.
- To highlight the effectiveness of ketogenic diet in managing GLUT1-DS symptoms.
Main Methods:
- Retrospective review of nine patients diagnosed with GLUT1-DS.
- Diagnosis confirmed by SLC2A1 mutations and/or low cerebrospinal fluid glucose.
- Clinical data analysis focusing on symptom presentation, evolution, and treatment response.
Main Results:
- Patients presented with seizures, developmental delay, or apnea.
- All patients developed mixed-type seizures; 56% exhibited movement disorders.
- Phenotypic variability and evolution were observed over time.
- Ketogenic diet was effective in reducing seizures and movement symptoms in five patients, with subjective cognitive improvement.
Conclusions:
- GLUT1-DS diagnosis is challenging due to phenotypic variability and evolution.
- A high index of clinical suspicion is essential for early diagnosis in pediatric and adult patients with epilepsy or movement disorders.
- Prompt diagnosis and ketogenic diet initiation can improve quality of life.
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