Search

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. We thought that it was SAD (seasonal affected disorder) so we got out the light bar and made sure he put all the lights on when in a room. But this was not the cause. His condition got worse so we took him to see Dr. Morton, even though Jeff yelled at us for” kidnapping” him from his job at McDonald’s. His blood leucine levels were slightly elevated and the ratio of isoleucine and valine was not normal. Also his tryptophan levels were very low. This enzyme helps regulate mood. We increased his Zoloft, gave him Melatonin, and 5-hydroxytryptophan (for a brief period). He also went on a sick day regime. Dr. Morton helped us understand that because Jeff is 41, his metabolism has slowed and he needs less protein. Jeff has a variant form of MSUD so he has always been able to handle more daily natural protein. We had to look at his diet and start limiting some of his snacks, many of which had 1 gm of protein. The 2 toughest changes were French fries and orange juice. A small serving of McDonald’s French fries has 3 gm of protein so he now has 2 hash browns at lunch plus a salad. Orange juice is high also so he now drinks an orange/pineapple drink. We have been using some gluten free products. After these changes, we had his blood levels checked and his leucine level was within normal range, much lower than it used to be. Jeff is back to the fun guy he has always been. He sleeps better due to the melatonin. We hope that when he is in his 50’s this will not start again. We also hope, as do all of the MSUD patients, that there will be a cure by then or at least a drug that allows them to consume more daily natural protein.

Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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

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

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

Transform

A Child's Life

Subscribe to our mailing list

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