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

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

Abstract 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 pathway...

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Bibliographic Details
Main Authors: Alice Dallan, Giuseppe Reynolds, Carlotta Canavese, Diana Carli, Maria Luca, Andrea Gazzin, Marco Spada, Francesco Porta, Alessandro Mussa
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TPK1
Thiamine metabolism dysfunction syndrome 5
Thiamine
Recurring ataxia
Leigh syndrome
Online Access:https://doi.org/10.1186/s13023-025-03665-9
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https://doi.org/10.1186/s13023-025-03665-9

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