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The term Maple Syrup Urine Disease includes a range of classic and variant types of the disorder. The symptoms of classic MSUD are usually evident within the first week of life and include a poor appetite, irritability, and the characteristic odor of the urine. Within days, the infants may lose their sucking reflex and grow listless, have a high-pitched cry, and become limp with episodes of rigidity. Without diagnosis and treatment, symptoms progress rapidly to seizures, coma, and death. Variant forms of MSUD are milder, but the symptoms can be severe during an illness and lead to a metabolic crisis. In variant types, failure to thrive may be the first symptom noticed.













Advocacy

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

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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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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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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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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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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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A Child's Life

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