Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family
DOI:
https://doi.org/10.71321/4qrv2c88Keywords:
GLUT1DS, seizures, ketogenic diet, prognosis, SLC2A1Abstract
Objective: Two patients from the same family with glucose transporter type 1 deficiency syndrome (GLUT1-DS) were reported, and they exhibited markedly different clinical symptoms.
Methods: We described two patients with GLUT1 deficiency syndrome (GLUT1-DS) and compared their clinical presentations.
Results: Two patients from the same family have the same genetic mutation but exhibit vastly different clinical presentations.
Conclusion: GLUT1-DS presents complex and varied clinical manifestations, complicating diagnosis and requiring multiple diagnostic methods. Treatment options are limited, with the ketogenic diet as a potential therapeutic approach.
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The analyzed data sets generated during the study are available from the corresponding author on reasonable request.
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