Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.¹ Ninety percent of patients with G1D harbor a causative loss-of-function mutation in the SLC2A1 gene; in the others, brain fluorodeoxyglucose (FDG) PET can confirm the diagnosis.

中文翻译：

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GLUT1缺乏症：胶质血管调节的视网膜有害作用。

大多数1型葡萄糖转运蛋白缺乏症（GLUT1）综合征（G1D）的患者都会经历抗惊厥性难治性癫痫以及认知和运动发育异常。¹ 90％的G1D患者在SLC2A1基因中存在因功能丧失引起的突变；在其他人中，脑氟脱氧葡萄糖（FDG）PET可以确诊。