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The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment

4 Apr 2025

Abstract excerpt

Thiamine metabolism dysfunction syndrome 5 (TMDS5) is a rare inborn error of metabolism caused by variants in TPK1, leading to reduced TPK levels. This enzyme is crucial for the production of thiamine pyrophosphate, the active form of thiamine, a vital coenzyme in numerous metabolic pathways. The clinical presentation exhibits a diverse range of manifestations. In this review, we explore reported cases in the...

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PMID: 40186230
DOI: 10.1186/s13023-025-03665-9

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