Search

NEW RESEARCH - HOT OFF THE PRESS!

A newly published paper describes a study conducted by Bouchereau and colleagues on neurocognitive development in 21 children with MSUD in France. All of the children had classical MSUD and were diagnosed in the neonatal period. The children underwent neuropsychological testing between the ages of 6 and 12 years.

All but 3 of the children had IQ scores within the normal range. The 3 who scored a low IQ were diagnosed later and had poorer metabolic control. Almost all of the children had attention deficit disorder and hyperactivity. Testing showed impaired mental flexibility and inhibitory control with impulsivity. Verbal abilities were higher than performance abilities for some of the children.

The authors concluded that it is important for children with MSUD to undergo neurological testing so that appropriate interventions can be initiated.

J Inherit Metab Dis. 2017 Mar 21. doi: 10.1007/s10545-017-0033-7.
[Epub ahead of print]

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.

Read More

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.

Read More

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.

Read More

In The Professional Journals

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

Read More

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.

Read More

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.

Read More

Transform

A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates