Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

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

Journal: World journal of pediatrics : WJP 2025;21(2):149-158

PMID: 39745620

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Abstract

BACKGROUND

Glucose transporter 1 deficiency 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 neuro-metabolic 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 effective 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 final 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 exercise-induced 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 first-line treatment; the earlier it is started, the better the prognosis. It can effectively control seizures and improve motor disorders. Antiepileptic drug treatment is generally ineffective or provides limited symptom improvement before starting the ketogenic diet.

CONCLUSION

The recommendations provide clinicians with a relatively systematic guide for the rapid identification, diagnosis, and timely treatment of Glut1DS.

Address: The First Hospital of Peking University, Beijing, China.; The First Affiliated Hospital of Anhui Medical University, Anhui, China.; Children's Hospital of Fudan University, Shanghai, China.; Guangdong Sanjiu Brain Hospital, Guangdong, China.; Huazhong University of Science and Technology Tongji Medical College Affiliated Wuhan Children's Hospital, Wuhan, China.; Department of Pediatric Neurology, Children's Medical Center, The First Hospital of Jilin University, Changchun, 130021, Jilin, China.; Children's Hospital of Nanjing Medical University, Nanjing, China.; Second Hospital of West China of Sichuan University, Sichuan, China.; The Second Hospital, Cheeloo College of Medicine, Shandong University, Shandong, China.; Children's Hospital Affiliated to Shandong University, Shandong, China.; Qilu Hospital of Shandong University, Shandong, China.; Shanghai Deji Hospital, Shanghai, China.; Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian, China.; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Children's Hospital of Soochow University, Jiangsu, China.; Wuxi Children's Hospital, Jiangsu, China.; The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China.; Xuzhou Children's Hospital, Jiangsu, China.; General Hospital of the Chinese People's Liberation Army, Beijing, China.; Shengjing Hospital of China Medical University, Liaoning, China.; Children's Hospital affiliated to Zhejiang University School of Medicine, Hangzhou, China.; The Third Affiliated Hospital of Zhengzhou University, Henan, China.; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. [email protected].; Shenzhen Children's Hospital, Shenzhen, China. [email protected].; The First Hospital of Peking University, Beijing, China. [email protected].

DOI: 10.1007/s12519-024-00864-5