A survey to help direct the Genetic Metabolic Dietitians International (GMDI) to provide resources to accompany its Nutrition Management Guidelines ( see: https://southeastgenetics.org/ngp) 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.