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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.








My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

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The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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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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Fundraising

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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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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