Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family

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.