Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients
The clinical manifestations of Glut1DS primarily include seizures, movement disorders, and developmental delay. Most affected children had CSF glucose levels below 2.2 mmol/L, with CSF-to-blood glucose ratios under 0.45. Two of the most common SLC2A1 variants were identified in our cohort. Ketogenic diet therapy was effective in controlling seizures, improving movement disorders, and was well tolerated.
Authors
- Yongxin Wen (ORCID: https://orcid.org/0000-0001-8406-0374)
- Qingping Zhang (ORCID: https://orcid.org/0000-0001-7969-5797)
- Xinhua Bao (ORCID: https://orcid.org/0000-0003-3670-159X)
- Mei-Jiao Zhang
- Yuwu Jiang (ORCID: https://orcid.org/0000-0002-5179-9807)
- Shimin Zhang (ORCID: https://orcid.org/0000-0001-6319-148X)
- Jia-Ping Wang (ORCID: https://orcid.org/0000-0003-3181-7841)
Institutions
- Capital Medical University (CN)
- Peking University (CN)
- Peking University People's Hospital (CN)
- Peking University First Hospital (CN)
- Guangdong Province Women and Children Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- World Journal of Pediatrics
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1007/s12519-025-00884-9
- Citations
- 3
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 3.49