Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the gene. variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of TPK deficiency with completely different phenotypes and different therapeutic effects, and 26 cases of previously reported were retrospectively reviewed to improve our understanding of the clinical and genetic features of the disease. Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction. Different gene variant sites may lead to different clinical features and therapeutic effects. Gene analysis is important for the diagnosis of TPK deficiency caused by variants, and thiamine supplementation has been the mainstay of treatment for TPK deficiency to date.
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| http://dx.doi.org/10.3389/fped.2023.1173787 | DOI Listing |
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Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
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Biochim Biophys Acta Gen Subj
March 2022
Laboratory of Neurophysiology, GIGA-Neurosciences, University of Liege, Liege, Belgium. Electronic address:
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