Nutrition Management Guidelines for MSUD | Southeast Regional Genetics Network

Management

Guidelines

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MSUD Nutrition Management Guidelines

First Edition
February 2013, v.1.46
Current version: v.2.0
Updated: May 2014
Feedback/Comments :: View Release Notes

Overview
- Nutrition Guidelines Project
- Purpose
- Target Population
- Intended Users of the Guidelines
- Sponsor Organization
- Funding
- Content Highlights
Methodology
- Overview
- Question Formulation
- Search Process
- Critical Appraisal and Abstraction
- Evidence Summary
- Development of Recommendations
- Portal Application
- Plan for Updating
Background
- Introduction to Guidelines
- Newborn Screening
- Confirmatory Testing
- Genetics
Biochemical Pathway and Nutrition Treatment Rationale
- Biochemical Pathway Figure
- Nutrition Treatment Rationale
Nutrition Assessment
- Patient History
- Anthropometrics
- Nutrition-focused Physical Findings
- Laboratory Findings, Medical Tests and Procedures
- Food and Nutrition-related History
Comparative Standards
- Overview
- Comparison of nutrient intake to established standards
Nutrition Problem Identification
- Overview
- Common Nutrition Diagnoses
Nutrition Intervention
- Overview
Nutrition Recommendations
- 1. Nutrition interventions during illness, trauma or surgery
- 2. Nutrition management and Branched chain amino acid (BCAA) blood concentrations
- 3. Thiamin supplementation
- 4. Nutrition interventions during pregnancy, at delivery and during the postpartum period
- 5. Nutrition interventions and liver transplantation
Monitoring and Evaluation
- Biomarkers to Monitor
Resources
- Overview
- Learning Objectives for Patients/Families
- Resources for patients
- Resources for providers
Benefits and Harms of Implementing the Recommendations
- Overview
- Potential Harms
- Potential Benefits
Barriers to Implementation
- Overview
- Infrastructure
- Patient-related
- Regulatory
Areas for Future Research
- Areas for Future Research
List of Tables
- T.1 MSUD Phenotypes
- T.2 Laboratory and Clinical Findings for Classical MSUD
- T.3 Nutrient Recommended Intake and Sources in the Dietary Treatment of Well Individuals with MSUD
- T.4 Recommended Daily Nutrient Intakes of BCAA, PRO, ENERGY and Fluids for Infants, Children and Adults with MSUD (when well)
- T.5 Protein Recommendations during Pregnancy for MSUD
- T.6 Nutrition Problem Identification for MSUD based on the International Dietetics and Nutrition Terminology Reference Manual, 3rd Edition
- T.7 Recommendations for the Nutritional Monitoring of Individuals with MSUD
- T.8 Findings from Delphi Survey Round 1
- T.9 Findings from Delphi Survey Round 2
- T.10 Delphi Round 1 - Lab Test Frequency for Medically Stable Individuals
References
- Analyzed Literature
- Reference Materials
Contributors
- Key Project Personnel
Appendix A: Recommendation Rating Definitions
- Strength of Recommendation Rating
- Clinical Action/Application
Appendix B: Terms
- Important Terms Used in This Document
Disclaimer
- Disclaimer

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This version is not current. Click to view the most recent edition (v.2.0, May 2014).

Areas for Future Research

The guidelines for nutritional management are based on the best available evidence as well as survey results and expert opinion. In nearly all areas of these management and monitoring guidelines, collection of more clinical data, well-designed clinical trials, and use of patient registries have the potential to increase the validity of the recommendations. In addition, future research (Y.4) will be able to evaluate experimental therapies, that are now being investigated, such as:

Regulation of MSUD BCAA levels with phenylbutyrate (L.5, Y.2, Y.3)
Use of antioxidants (L.4, Y.6)
Treatment with norleucine ( L.7, Y.7)
Hepatocyte transplantation (L.6)

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