Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease

BACKGROUND: Thiamine metabolism dysfunction syndrome 5 (THMD5) is a rare inherited metabolic disorder due to thiamine pyrophosphokinase 1(TPK1) deficiency, caused by mutations in TPK1. The core symptoms of the disease is acute or subacute onset encephalopathy, ataxia, muscle hypotonia, and regressio...

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Detalles Bibliográficos
Autores principales: Li, Xiaoyan, Huang, Zhixin, Chen, Yong, Sun, Xiaolan, Yi, Zhaoshi, Xie, Jihua, Yu, Xiongying, Chen, Hui, Zhong, Jianmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520874/
https://www.ncbi.nlm.nih.gov/pubmed/36175994
http://dx.doi.org/10.1186/s12883-022-02887-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520874/
https://www.ncbi.nlm.nih.gov/pubmed/36175994
http://dx.doi.org/10.1186/s12883-022-02887-9

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