Our organization joined 108 others in signing a letter in support of expanded newborn screening in Florida. While MSUD is now a part of newborn screening in every state, many other rare diseases are not. This effort, spearheaded by The EveryLife Foundation for Rare Diseases, aims to support legislation which would expanding newborn screening in the state of Florida to include diseases recommended by the state’s Genetics and Newborn Screening Advisory Council.

In The Professional Journals

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

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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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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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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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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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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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A Child's Life

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