Over the years, the MSUD Family Support Group has been actively involved in improving the lives of individuals affected with MSUD and their families by funding projects proposed by clinicians and researchers. The initial request for funds came in 2000 from Emory University Medical Genetics. Our organization paid for the development and publication of the MSUD Food List, a pocket-size guidebook with nutritional information for many common foods in the MSUD diet. The “little purple book” has proven to be invaluable for many families.

In 2003 the MSUD Board was approached by Dr. Harbhajan Paul and asked to fund the work he and his colleagues were doing at the University of Pittsburgh to develop an animal model with MSUD. After reviewing the research proposal, the support group ambitiously committed $48,000 to this project. Our members came together and successfully raised the funds necessary to meet our financial commitment. The investment definitely paid off as the mice developed by the team are being used today by several labs looking for alternative treatments for MSUD.

A few years later, MSUD board members traveled to Winston- Salem, NC and met with Dr. Susan Hutson and her team at Wake Forest. The researchers presented their plan to develop an MSUD mouse model to better understand the effects of MSUD on the central nervous system and body metabolism. The board agreed to fund the research project and again our members supported the project financially. Dr. Hutson’s work continues now at Virginia Tech.

At a previous symposium, MSUD parents expressed concern about the psychosocial effects of MSUD and an interest in research to better understand this issue. Fortunately, Dr. Wendy Packman and Dr. Indira Mehta from California shared our concerns and proposed a study to examine the psychosocial issues. The organization assisted financially with the project and the results were published in the Journal of Genetic Counseling titled “Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues.” ( pubmed/22350623)

In 2011, another researcher, Dr. William Zinnanti, reached out to our organization. Board members met in Columbus, Ohio and listened to a presentation by Dr. Zinnanti. His plans involved testing new pharmacologic treatments for MSUD, specifically Gabapentin and norleucine. After consulting with our medical advisors, the board decided to fund the project which is ongoing.

For several years, dietitians from the Genetic Metabolic Dieticians International (GMDI) and clinicians from the Southeast Regional Genetics Collaborative (SERC) worked together and developed nutritional guidelines for several metabolic disorders, including MSUD. These guidelines are used by metabolic professionals to improve care and treatment. The GMDI workgroup members felt that it was important to meet face to face to evaluate provider and patient materials based on the MSUD guidelines and requested funds to assist with meeting costs.

The MSUD organization funded that meeting in Raleigh, NC which included several GMDI members and a representative from the MSUD Family Support Group.

In 2014, the MSUD board was approached by Dr. Gerald Downes from the University of Massachusetts- Amherst. He expressed a need for funds to establish zebrafish models for different types of MSUD. The goal is to use the zebrafish to search for new drugs to treat MSUD. The board was interested in his project and funded his work which continues (see below for an update of Dr. Downes’ research).

Lastly, the organization provided funds for the development of NBS Connect, which is an internet-based support network for parents and individuals with inborn errors of metabolism. The site is managed by staff from Emory University Department of Human Genetics. Check out the site at NBSCONNECT.ORG and take advantage of the work of these dedicated professionals.

The MSUD Family Support Group is an active organization eager to improve the lives of those with MSUD through new and improved treatments. We would not have been able to fund these projects without the generous donations of time and money from our members. We are grateful to all of our members who fundraised or personally donated to these projects. We are especially grateful to the Scott C Foster Fund and the MSUD Research Foundation.

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.

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MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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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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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.

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A Child's Life

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