University of North Carolina
Chapel Hill, NC 27599

With the expansion of newborn screening, it is now conceivable that every infant with MSUD can be detected in the newborn period, and treatment initiated to allow them to have healthy and productive lives.

With earlier detection comes a need for evidence-based treatment guidelines. Those involved in newborn screening programs have devoted much of their energy over the last decade to the development of newer laboratory methods for detecting numerous rare inborn errors of metabolism (including MSUD). Some of the disorders that can now be detected are so rare that there has been very little accumulated data about best means of treatment. Furthermore, the treatment protocols for most inborn errors of metabolism are as variable and numerous as the clinics providing care. With funding from the federal agency Health Resources and Services Administration (HRSA), the Genetic Metabolic Dietitians International (GMDI) and the Southeastern Regional (SERC) Collaborative have undertaken a project to create evidence-based nutritional treatment guidelines for inborn errors of metabolism detected through expanded newborn screening.

The nutritional guidelines project expects to achieve the following:
  • Less uncertainty and variability in the management of patients
  • More consistent documentation of care and tracking of outcomes
  • Ability to combine clinical data from many centers to inform and evaluate practice
  • Identification of priority questions for collaborative research

A group of eight senior metabolic dietitians from across the US make up the workgroup devoted to writing the guidelines for MSUD. They have identified 5 topic areas on which to concentrate their efforts:

  • Use of thiamine supplementation
  • Treatment during pregnancy and the postpartum period
  • Treatment during acute illness and at diagnosis
  • Treatment during and after liver transplantation
  • Evidence-based Treatment Plans for MSUD
  • Optimal plasma levels of branched chain amino acids
The process being utilized for gathering data is called evidence-based analysis. This is a standardized process by which data from published research and clinical articles are evaluated and combined to see if there is strong evidence to support various aspects of treatment. Because many clinics have developed unique treatment protocols based on their own experience with their patients with MSUD, a collection of these clinic protocols is also being evaluated. In instances where all the accumulated data fails to provide sufficient evidence to allow for writing a clear guideline, the workgroup has developed a survey tool to be taken by experienced metabolic physicians and dietitians from all regions of the US. Data from the completed surveys will be combined, and any items that remain unclear will be discussed in a face-toface meeting of metabolic experts. A concensus will be reached based on scientific reasoning. We will ask for input from the MSUD community before finalizing the guidelines.

What will the final guidelines look like? They will contain background information about MSUD, its diagnosis, biochemistry and genetic characteristics, all adequately referenced. Next, step by step nutritional management guidelines will be given to cover all aspects of care and monitoring from the time of diagnosis, during acute illness, and special circumstances over the lifespan. Each step of the guidelines will have annotations informing the user of the strength of the evidence supporting that particular step. Finally, there will be resources and links to resources that will be helpful for managing MSUD.

While the guidelines are being developed for the healthcare team, their ultimate goal will be to provide the best possible care for the MSUD community.

Should you wish to participate in the public input, you may contact me at This email address is being protected from spambots. You need JavaScript enabled to view it.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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