The diagnostic value of glucose transporter 1 level of erythrocyte membrane and glucose uptake rate of erythrocytes in glucose transporter type 1 deficiency syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective:To explore new methods to assist the diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1-DS).Methods:Sixteen children with epilepsy and/or movement disorder carrying the SLC2A1 mutation who admitted to Department of Pediatrics, the First Medical Center, Chinese People′s Liberation Army General Hospital and Department of Nutrition, Shanghai Deji Hospital from October 2019 to October 2020 were retrospectively analyzed.GLUT1-DS was diagnosed based on clinical phenotype, glucose level in CSF and/or genetic testing results.Forty-four healthy children who underwent physical examination in the First Medical Center, Chinese People′s Liberation Army General Hospital during the same period were selected as healthy control group.Glucose transporter 1 (GLUT1) level on the membrane surface of peripheral red blood cells and erythrocyte glucose uptake rate were measured by flow cytometry and glucose oxidase method, respectively.Their differences between groups were compared by the rank sum test.The receiver operating cha-racteristic (ROC) curve was plotted to assess their diagnostic value. Results:Sixteen children were diagnosed as GLUT1-DS.GLUT1 levels of 16 children with GLUT1-DS were significantly lower than those of healthy control group [17.96% (13.43%, 22.12%) vs.27.93% (24.76%, 34.30%), Z=5.249, P<0.001]. Area under curve (AUC) was 0.946, and weighted Kappa was 0.791 ( P<0.001). The erythrocyte glucose uptake was measured in 12 children with GLUT1-DS, which was significantly lower than that of healthy control group [23.14% (14.80%, 26.45%) vs.27.40% (24.61%, 32.82%), Z=2.366, P=0.018]. AUC and weighted Kappa were 0.724 and 0.344, respectively ( P<0.001), showing a poor consistency. Conclusions:GLUT1 level on the surface of human erythrocyte membrane measured by flow cytometry may be a new method to assist the diagnosis of GLUT1-DS.The erythrocyte glucose uptake rate test requires stricter experimental conditions and needs further investigation.