MSUD treatment has come a very long way.  With earlier diagnosis, the availability of medical formulas and better treatment during metabolic crises, more people with MSUD are able to keep leucine levels under adequate control and live mostly independent and satisfying lives.

As discussed in this newsletter, researchers have turned their attention to the neuropsychological effects of MSUD.  Just how does this disease affect the brain?  How do we help schools identify the services our children need to ensure their success?  Will transplant reverse deficits in executive functioning?

Paula McLaughlin and colleagues recently published a case study describing the results of neuropsychological testing in a 26 year old woman 2 years after she had a liver transplant.  In addition to MSUD, she had been diagnosed with ADHD, anxiety, and depression in childhood.  The authors noted that the seizures and hallucinations she was prone to pre-transplant had stopped, but she continued to struggle with planning, time management, and attention, all aspects of executive functioning.  Abstract reasoning, impulse control and problem-solving remained areas of difficulty for her.  While speech, coordination, reading and driving were improved, anxiety and depression were heightened and she was receiving ongoing treatment.

As we learn more about the brain and how it is affected by MSUD, researchers are hopeful that effective treatments will be incorporated into early childhood care.


As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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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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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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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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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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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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A Child's Life

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