Maple Syrup Urine Disease (MSUD)

Named for the characteristic maple syrup smell of the urine in affected individuals, MSUD is a disorder of amino acid metabolism. The condition is variable and affects newborns with irritability, poor feeding, lethargy, seizures, and coma, in addition to the urine odor. With careful dietary control, normal growth and development are possible. Possible shortened life expectancy. Cognitive impairment. Physical impairment.

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