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Tag: Thiamine responsive

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How Does Thiamine Help with MSUD?

4 min read
Affecting approximately 1 in 185,000 newborns globally, Maple Syrup Urine Disease (MSUD) is a metabolic disorder where the body cannot properly break down certain amino acids. For a specific, less common variant of this disease, thiamine—also known as vitamin B1—can play a critical therapeutic role by boosting the function of the deficient enzyme. Understanding how this coenzyme works is essential for effective treatment.