A  survey to help direct the Genetic Metabolic Dietitians International (GMDI) to provide resources to accompany its Nutrition Management Guidelines ( see: was included in the last issue of this newsletter. There were 43 respondents who represented a total of 51 individuals with MSUD. The responses were able to provide an overview of some of the management issues that you deal with everyday and insight about resources that may improve this management. A similar survey was available online for metabolic dietitians to learn how they are involved in MSUD management and what resources they feel are presently lacking.

While 7 adult respondents indicated that they had no contact with a metabolic dietitian, 47% of all respondents said that they had between 6 and >25 contacts per year. While 2 adults said they had no clinic visits, the remaining had between 1 and 6 clinic visits per year. The number of visits decreased as age increased. While 21% indicated that they had their leucine (LEU) levels checked only once or twice per year, the rest had more frequent monitoring: 4-50 times per year. Over one third of respondents said that they never checked urine for ketones, while an additional 25% checked “only as needed”. Among the remaining respondents, there were several who used urine testing routinely: monthly – daily.

Respondents indicated that they used a wide variety of “counting” methods to plan their diets. Fifty percent counted LEU or LEU plus protein (PRO); 42% counted PRO or counted PRO and avoided high PRO foods and 8% simply avoided high PRO foods. Without knowing the LEU tolerance of individuals taking the survey, nor what their blood LEU levels are, it is difficult to assess whether more accurate food composition data would improve their clinical status.  However, the overwhelming response to the questions about resources was that more extensive food composition data (LEU and PRO content) was needed. 

With the grant from the MSUD Family Support Group it was possible to assemble a “MSUD Toolkit Workgroup” consisting of: Amanda Andraos, Sandy Bulcher, Dianne Frazier, Caroline Homer, Julie McClure, Surekha Pendyal and Sandy vanCalcar. They analyzed the responses from the patients’ and providers’ surveys, collected and evaluated available resources, and set a priority list of resources to be developed. Along with this list, the workgroup also developed a system to guide the development and evaluation of new and existing resources. The first four resources that will be developed, enhanced or revised are:  low LEU/PRO food lists; pictorial information for low literacy or ESL (English as a second language)  families; educational material for children; and a booklet for pregnancy among women with MSUD.


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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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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From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

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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.

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From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

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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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A Child's Life

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