Diagnosis and treatment recommendations for glucose transporter 1 defciency syndrome  

作　　者：Mei-Jiao Zhang De Wu Li-Fei Yu Hua Li Dan Sun Jian-Min Liang Xiao-Peng Lu Rong Luo Qing-Hui Guo Rui-Feng Jin Hong-Wei Zhang Ge-Fei Lei Ruo-Peng Sun Man Wang You-Feng Zhou Ying-Yan Wang Ji-Hong Tang Ying Hua Xu-Lai Shi Xiao-Ming Liu Xiu-Yu Shi Guang Yang Hua Wang Feng Gao Tian-Ming Jia Ji-Wen Wang Jian-Xiang Liao Xin-Hua Bao 

机构地区：[1]The First Hospital of Peking University,Beijing,China [2]The First Afliated Hospital of Anhui Medical University,Anhui,China [3]Children’s Hospital of Fudan University,Shanghai,China [4]Guangdong Sanjiu Brain Hospital,Guangdong,China [5]Huazhong University of Science and Technology TongjiMedical College Afliated Wuhan Children’s Hospital,Wuhan,China [6]Department of Pediatric Neurology,Children’sMedical Center,The First Hospital of Jilin University,Changchun 130021,Jilin,China [7]Children’s Hospital of Nanjing Medical University,Nanjing,China [8]Second Hospital of West China of Sichuan University,Sichuan,China [9]The Second Hospital,Cheeloo College of Medicine,Shandong University,Shandong,China [10]Children’s Hospital Afliated to Shandong University,Shandong,China [11]Qilu Hospital of Shandong University,Shandong,China [12]Shanghai Deji Hospital,Shanghai,China [13]Fujian Children’s Hospital(Fujian Branch of ShanghaiChildren’s Medical Center),College of Clinical Medicinefor Obstetrics&Gynecology and Pediatrics,Fujian MedicalUniversity,Fujian,China [14]Shanghai Children’s Medical Center,Shanghai Jiao TongUniversity School of Medicine,Shanghai,China [15]Children’s Hospital of Soochow University,Jiangsu,China [16]Wuxi Children’s Hospital,Jiangsu,China [17]The Second Afliated Hospital and Yuying Children’sHospital of Wenzhou Medical University,Zhejiang,China [18]Xuzhou Children’s Hospital,Jiangsu,China [19]General Hospital of the Chinese People’s Liberation Army,Beijing,China [20]Shengjing Hospital of China Medical University,Liaoning,China [21]Children’s Hospital afliated to Zhejiang University Schoolof Medicine,Hangzhou,China [22]The Third Afliated Hospital of Zhengzhou University,Henan,China [23]Shenzhen Children’s Hospital,Shenzhen,China

出　　处：《World Journal of Pediatrics》2025年第2期149-158,共10页世界儿科杂志(英文版)

基　　金：supported by National Key R&D Program of China(2019YFA0801900).

摘　　要：Background Glucose transporter 1 defciency syndrome(Glut1DS)was initially reported by De Vivo and colleagues in 1991.This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum.It is a treatable neurometabolic condition,where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.However,due to its rarity,Glut1DS is susceptible to misdiagnosis or missed diagnosis,which can lead to delayed treatment and irreversible dysfunction of the central nervous system.To promote diagnostic awareness and efective treatments,the recommendations for diagnosis and treatment have been developed.Methods The panel on Glut1DS included 28 participants from the members of the Ketogenic Diet Professional Committee of the Chinese Epilepsy Association and Chinese experts with extensive experience in managing Glut1DS.All authors extensively reviewed the literature,and the survey results were discussed in detail over several online meetings.Following multiple deliberative sessions,all participants approved the fnal manuscript for submission.Results Early diagnosis and timely treatment of Glut1DS are crucial for improving prognosis.Physicians should be alert to suspiction of this disease if the following clinical manifestations appear:seizures,episodic or persistent movement disorders(often triggered by fasting,fatigue,or exercise),delayed motor and cognitive development.Characteristic clinical presentations may include seizures combined with movement disorders,episodic eye-head movements,and paroxysmal exerciseinduced dyskinesia(PED).In these cases,genetic testing should be promptly completed,and a lumbar puncture should be performed if necessary.The ketogenic diet is internationally recognized as the frst-line treatment;the earlier it is started,the better the prognosis.It can efectively control seizures and improve motor disorders.Antiepileptic drug treatment is generally inefective or provides limited symptom improvement before starting the ketogenic diet.Conclusi

关 键 词：CONSENSUS DIAGNOSIS GlutlDS TREATMENT 

分 类 号：R74[医药卫生—神经病学与精神病学]