Maple Syrup Urine Disease | Pathogenesis, Signs & Symptoms, Subtypes, Diagnosis and Treatment

The video discusses Maple Syrup Urine Disease (MSUD), a rare genetic disorder caused by a deficiency in the enzyme responsible for metabolizing branching amino acids. It covers the condition's genetic basis, symptoms, and the impact on neurotransmitter synthesis. The video explains the metabolic pathway of branching amino acids and the subtypes of MSUD, including classic, intermittent, and intermediate forms. Diagnosis involves detecting elevated levels of specific amino acids, and management includes dietary restrictions and, in severe cases, liver transplantation.

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