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Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD

Vinayasree .C, Mohan Naidu .K, Muralinath .E, Amrutham Sandeep, Venkat Naveen . A, Guruprasad .M, Sravani Pragna .K

Abstract


Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested  by the impaired catabolism of certain amino acids. This disorder results in  the collection of  toxic substances in the body, leading to a range of symptoms and complications. MSUD is categorized  into different types dependent  on the specific enzyme deficiencies involved in the disease. This review article aims to provide a comprehensive overview of the types of MSUD, along with their clinical features, genetic basis, diagnostic methods, and management strategies.


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References


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