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Treatment of children with MSUD must be started as soon as possible. This involves a complex approach to maintain metabolic control. A special, carefully controlled diet is the focus of daily treatment. The diet centers around a synthetic formula or "medical food" which provides nutrients and all the amino acids except leucine, isoleucine and valine. These three amino acids are added to the diet with strictly limited amounts of food to provide the protein necessary for normal growth and development without exceeding the level of tolerance. This requires careful monitoring of protein intake and close medical supervision for life.

Tests are available to monitor the levels of the amino acids and their keto acid derivatives in the blood and urine. Illnesses and stress, as well as consuming too much protein, raise these levels. Even mild illnesses can become life-threatening. A metabolic imbalance requires dietary changes and, at times, hospitalization.

A liver transplant is an optional treatment. A donor liver from a person who does not have MSUD has enough enzyme activity to allow the person with MSUD to live free of the affects of MSUD. After transplant, the person with MSUD still carries the gene for the disorder, which can be passed to their offspring, but they are no longer in danger of a metabolic crisis and can eat a normal diet.








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