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

BMC neurology - 29 Sept 2022

Li Xiaoyan, Huang Zhixin, Chen Yong, Sun Xiaolan, Yi Zhaoshi, Xie Jihua, Yu Xiongying, Chen Hui, Zhong Jianmin

Abstract excerpt

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 regression of developmental milestones in early infancy, repeatedly triggered by acute infectious illness. However, we report...

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PMID: 36175994
DOI: 10.1186/s12883-022-02887-9
PMCID: PMC9520874

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