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Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review

9 Aug 2023

Abstract excerpt

Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 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...

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PMID: 37622082
DOI: 10.3389/fped.2023.1173787

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