February 2013, v.1.46
Current version: v.2.0
Updated: May 2014
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- Overview
- Methodology
- Background
- Biochemical Pathway and Nutrition Treatment Rationale
- Nutrition Assessment
- Comparative Standards
- Nutrition Problem Identification
- Nutrition Intervention
- 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
- Resources
- Benefits and Harms of Implementing the Recommendations
- Barriers to Implementation
- Areas for Future Research
- List of Tables
-
Literature Evidence Summary 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
- Contributors
- Appendix A: Recommendation Rating Definitions
- Appendix B: Terms
- Disclaimer
History of treatment/interventions
Review of family history
Socio-economic and educational status
Weight, height, head circumference, weight for length (or weight for height or BMI), http://www.cdc.gov/growthcharts/cdc_charts.htm
Tone, odor, skin, hair, constipation, diarrhea, vomiting
TABLE 2 - Laboratory and Clinical Findings for Classical MSUD
Laboratory test/symptom | Symptomatic | Pre-symptomatic/treated |
MS/MS NBS on blood spot | ↑↑BCAA, especially LEU; LEU:PHE ratio > 4.5-5 | <24 hr of age : normal or slight ↑BCAA; > 24 hr of age : slight ↑to ↑BCAA Treated in good control: normal or slight ↑BCAA |
Plasma amino acids | ↑↑BCAA (especially LEU), allo-ILE present; without TX, VAL and ILE may become normal or low. As LEU increases, see decreases in other essential and non-essential AA | normal or slight ↑BCAA; allo-ILE present |
Urine DNPH Rx | ++ after day 2-3 of life | - |
Urine organic acid analysis | ↑BCKA | normal or slight ↑ |
Ketonuria (urine keto sticks) | ++ | - |
Ammonia | May be ↑ or ↑↑ | - |
BCKD activity | 0-3% | 0-3% |
Blood glucose | ↓ or normal | normal |
Weight | ↓ | normal |
Lethargy, intermittent apnea, opisthotonus | + | - |
Maple syrup odor (in urine) | + usually by 72+ hr, (first apparent in cerumen by 12-24 hr) | - |
Irritability, poor feeding | + | - |
Vomiting | + | - |
Ataxia | + | - |
Visual hallucinations | + | - |
Coma, respiratory failure by 7-10 days of life without treatment | + | - |
Using outcome measures of anthropometrics, clinical history and laboratory assessment, evaluate the most recent dietary prescription and current dietary intake records for:
- BCAA (LEU, VAL, ILE) intake
- Medical food consumption (type and amount) and its macronutrient, vitamin/mineral content. See: http://gmdi.org/images/stories/foodtable/msud%20products2.pdf
-
Total intake of:
Protein (intact protein and amino-acid mixtures)
Energy
Vitamins and minerals
Fluid
Essential fatty acids and DHA