Open Access

Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome

  • Authors:
    • Hao Qian
    • Guohuan Ying
    • Haifeng Xu
    • Shangyu Wang
    • Bing Wu
    • Xin Wang
    • Hongdan Qi
    • Mingying He
    • M. Jalal Ud Din
    • Tingting Huang
    • Yimei Wu
    • Gang Zhang
  • View Affiliations

  • Published online on: July 19, 2024     https://doi.org/10.3892/mi.2024.181
  • Article Number: 57
  • Copyright : © Qian et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].

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Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1‑DS) is a rare metabolic encephalopathy with a wide variety of clinical phenotypes. In the present study, 15 patients diagnosed with GLUT1‑DS were selected, all of whom had obvious clinical manifestations and complete genetic testing. Their clinical data and genetic reports were collated. All patients were provided with a ketogenic diet (KD) and an improvement in their symptoms was observed during a follow‑up period of up to 1 year. The results revealed that the 15 cases had clinical symptoms, such as convulsions or dyskinesia. Although none had a cerebrospinal fluid/glucose ratio <0.4, the genetic report revealed that all had the solute carrier family 2 member 1 gene variant, and their clinical symptoms basically improved following the use of the KD. GLUT1‑DS is a genetic metabolic disease that causes a series of neurological symptoms due to glucose metabolism disorders in the brain. Low glucose levels in cerebrospinal fluid and genetic testing are key diagnostic criteria, and the KD is a highly effective treatment option. By summarizing and analyzing patients with GLUT1‑DS, summarizing clinical characteristics and expanding their gene profile, the findings of the present study may be of clinical significance for the early recognition and diagnosis of the disease, so as to conduct early treatment and shorten the duration of brain energy deficiency. This is of utmost importance for improving the prognosis and quality of life of affected children.
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November-December 2024
Volume 4 Issue 6

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Spandidos Publications style
Qian H, Ying G, Xu H, Wang S, Wu B, Wang X, Qi H, He M, Ud Din M, Huang T, Huang T, et al: Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome. Med Int 4: 57, 2024.
APA
Qian, H., Ying, G., Xu, H., Wang, S., Wu, B., Wang, X. ... Zhang, G. (2024). Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome. Medicine International, 4, 57. https://doi.org/10.3892/mi.2024.181
MLA
Qian, H., Ying, G., Xu, H., Wang, S., Wu, B., Wang, X., Qi, H., He, M., Ud Din, M., Huang, T., Wu, Y., Zhang, G."Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome". Medicine International 4.6 (2024): 57.
Chicago
Qian, H., Ying, G., Xu, H., Wang, S., Wu, B., Wang, X., Qi, H., He, M., Ud Din, M., Huang, T., Wu, Y., Zhang, G."Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome". Medicine International 4, no. 6 (2024): 57. https://doi.org/10.3892/mi.2024.181