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.


In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

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Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

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Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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A Child's Life

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