Yingyan Wang

Abstract Objective: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) presents with diverse clinical manifestations and varying degrees of severity. This study aims to investigate the clinical characteristics of patients with GLUT1-DS and to evaluate the efficacy and safety of ketogenic diet (KD). Methods: Clinical data were retrospectively collected from 56 patients with GLUT1-DS treated at Shanghai Deji Hospital between March 2015 and May 2024.

Introduction Glucose transporter 1 deficiency syndrome (Glut1DS) is a rare inherited neurological disorder initially described by De Vivo et al. in 1991 (1). It is caused by pathogenic variants in the SLC2A1 gene, which lead to reduced expression or dysfunction of glucose transporter protein 1 (Glut1) located on the endothelial cells of blood-brain barrier and astrocytes, reducing glucose transport into the central nervous system (CNS).