Dr. Sheela Nampoothiri traveled to Ohio this past June to attend the MSUD Symposium. She was interested in
learning more about diagnosis and treatment in the US. In India, MSUD is difficult to treat. While they do have an amino
acid analyzer, it uses high pressure liquid chromatography, not the more accurate tandem mass spectrometry. When
needed, filter paper samples are sent abroad.

India does not screen newborns for MSUD, nor do they have metabolic formulas to treat inborn errors of metabolism. They
have not been able to overcome the hurdles of customs clearance and cost, which must be born by the patient. BCAA free
TPN is also not available.


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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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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In The Professional Journals

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

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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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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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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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