Search

Four general classifications are used to identify the types of MSUD: classic, intermediate, intermittent and thiamine-responsive. These terms refer to the amount and type of enzyme activity present in the affected child, which can vary considerably within each classification.

Classic is the most common type of MSUD. In classic MSUD, little or no enzyme activity (usually less than 2% of normal) is present. Infants with classic MSUD will show symptoms within the first several days of life. They generally have poor tolerance for the BCAAs, so protein must be severely restricted in their diet.

Intermediate MSUD is a variant of the classic type of the disease. Those with intermediate MSUD have a higher level of enzyme activity (approximately 3-8% of normal). They can usually tolerate a greater amount of leucine. However, when ill or fasting, the child with intermediate MSUD reacts just like a child with classic MSUD. Management is similar for the intermediate and classic types of MSUD.

Intermittent MSUD is a milder form of the disease because of the greater enzyme activity present (approximately 8-15% of normal). Often the child does not have symptoms until 12 to 24 months of age, usually in response to an illness or surge in protein intake. During episodes of illness or fasting, the BCAA levels elevate, the characteristic maple syrup (or burnt sugar) odor becomes evident, and the child can go into a metabolic crisis.

Thiamine-responsive MSUD is basically just what the name implies. Giving large doses of thiamine to the thiamine-responsive child will increase the enzyme activity which breaks down leucine, isoleucine and valine. In most cases only moderate protein restriction is needed for this more rare type of MSUD.


















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

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.

Read More

In The Professional Journals

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

Read More

Our Story

On April 23 2015, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home.

Read More

Advocacy

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

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

Transform

A Child's Life

Subscribe to our mailing list

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