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.

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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NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

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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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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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A Child's Life

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