The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome
Glut1DS predominantly manifests as the classical phenotype, with the early-onset classical phenotype presenting at the youngest age and exhibiting the most severe clinical symptoms. Patients with this type also showed lower CSF glucose levels and a lower CSF glucose to blood glucose ratio compared to other types. Missense and in-frame indel variants were associated with a later age of onset compared to other types of genetic variants. No significant correlations were found between genotype and clinical classification or CSF glucose levels.
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)
- Hui Xiong (ORCID: https://orcid.org/0009-0003-0862-4838)
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
- Frontiers in Neurology
- Published
- 2025-09-16
- DOI
- https://doi.org/10.3389/fneur.2025.1638549
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00