February 2013, v.1.58
Current version: v.2.0
Updated: June 2021
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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 Dietary PRO, BCAA and Energy Intake
- T.5 Nutrition Problem Identification for MSUD based on the International Dietetics and Nutrition Terminology Reference Manual, 3rd Edition
- T.6 Recommendations for the Nutritional Monitoring of Individuals with MSUD
- T.7 Classification of Medical Foods for MSUD
MSUD Toolkit Tables- T.8 Recommended Nutrient Intake for Newborn Infant with MSUD
- T.9 Medical Food and Breast Milk Composition for Case 3.1
- T.10 Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using breast milk
- T.11 Rounded Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using breast milk
- T.12 Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using infant formula
- T.13 Recommended Nutrient Intake for Older Infants with MSUD
- T.14 Calculation of Current Nutrient Intake for Case 4.1
- T.15 Introduction of Solids for Case 4.1
- T.16 Sample Menu with Suggested Feeding Schedule for Case 4.1: infant with MSUD starting solids
- T.17 Recommended Nutrient Intake for the School-aged Child with MSUD
- T.18 Sample Menu for Case 5.1: school age child with MSUD
- T.19 Nutrition Goals During Acute Illness
- T.20 Monitoring During Acute Illness
- T.21 Recommended Nutrient Intake for Pregnant Woman with MSUD
- T.22 Recommended Nutrient Intakes for an Adult Woman with Classical MSUD (Non-pregnant)
- T.23 24-Hour Dietary Intake of an Adult Woman with Classical MSUD (non-pregnant)
- T.24 Calculation of Current Nutrient Intake for AC Prior to Pregnancy
- T.25 24-Hour Intake Modified for Increased Intact Protein
- T.26 Calculation of Current Nutrient Intake for AC at 30 Weeks Gestation
- References
- Contributors
- Appendix A: Recommendation Rating Definitions
- Appendix B: Terms
- Disclaimer
Table 7 provides recommendations for the nutritional monitoring of individuals with MSUD.
TABLE 6 - Recommendations for the Nutritional Monitoring of Individuals with MSUD
Domain Measures | Infants | Children | Children | Adults | Planning Pregnancy or Pregnant | Postpartum and Lactation |
Assessment of Clinical Status 2 Physical findings, growth, and laboratory results should be within normal for age, sex, and life stage, except for blood levels of BCAA 5 | ||||||
Nutrition assessment and counseling (dietary intake3 and nutrient analysis, nutrition-related physical findings, nutrition counseling, diet education) | Weekly to monthly | Monthly to every 6 months | Every 6 to 12 months | Every 6 to 12 months | Monthly to per trimester | At 6 weeks postpartum, then every 6 months |
Interim nutrition contact (diet adjustment based on blood BCAA levels, or counseling at clinic or by phone/electronic communication) | Twice weekly to weekly | Weekly to monthly | Weekly to monthly | Monthly | Once to twice weekly | Weekly to monthly |
Anthropometrics (weight, length or height, weight for length or BMI, head circumference through 36 months and as indicated) | At every clinic visit; include head circumference | At every clinic visit; include head circumference until age 4 years | At every clinic visit | At every clinic visit | At every clinic visit; include growth of the fetus | At every clinic visit; assess growth of the offspring during lactation |
Assessment of Biochemical Status (Monitoring and Routine)4 | ||||||
Leucine (plasma, serum, or whole blood)5 | Daily, until stabilized. Once to twice weekly until 6 months, then weekly | Weekly until 24 months, then monthly | Monthly | Monthly | Weekly | Weekly until 6 weeks postpartum then monthly |
Valine, isoleucine, alloisoleucine (plasma, serum, or whole blood)5 | Daily, until stabilized. Once to twice weekly until 6 months, then weekly | Weekly until 24 months, then monthly | Monthly | Monthly | Weekly | Weekly until 6 weeks postpartum then monthly |
a-keto acids (or ketones)6 | Daily, until stabilized. Once to twice weekly until 6 months, then weekly | Weekly until 24 months, then monthly | Monthly | Monthly | Weekly | Weekly until 6 weeks postpartum then monthly |
Amino acids, plasma (full panel) | Monthly | Monthly until 24 months, then every 6 months | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment |
Transthyretin (prealbumin) | Every 6 months | Every 6 months | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment |
Albumin | Every 6 months | Every 6 months | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment |
Complete Blood Count (CBC) | Every 6 months | Every 6 months | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment |
| Ferritin | Every 6 months | Every 6 months | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment | With every clinic visit/ assessment |
Assessment of Biochemical Status (Conditional)7 When nutritional assessment indicates poor compliance with diet or inadequate medical food consumption, or there has been consumption of an incomplete medical food, clinical signs/symptoms of nutritional inadequacy including poor growth, or serious intercurrent illness or metabolic decompensation, these laboratory indices should be evaluated. If laboratory values are abnormal, reassessment of specific analytes should be scheduled within one month of intervention. | ||||||
25-OH vitamin D | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| Vitamin B12 | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| RBC essential fatty acids | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| Trace minerals (Zn, Cu, Se) | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| Vitamin A | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| Comprehensive metabolic panel | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| Folic acid8 | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
| L-carnitine (free, esterified and total)8 | In addition, preconceptually or as soon as pregnancy is confirmed | In addition, once in the postpartum period | ||||
Radiologic | ||||||
DEXA scan (Dual-energy X-ray absorptiometry) | n/a | n/a | Every 3 to 5 years beginning at age 8 years if low vitamin D or frequent fractures | If low vitamin D or frequent fractures | n/a | n/a |
| Ultrasound | n/a | n/a | n/a | n/a | First trimester, 18 to 20 weeks then every 4 weeks until delivery | n/a |
| Echocardiogram (fetal) | n/a | n/a | n/a | n/a | 18 to 20 weeks | n/a |
1 Intervention and monitoring during catabolic illness or at the time of diagnosis is covered in Question1 in the Nutrition Recommendation Section of the Guideline.
2 The recommended frequency of clinical assessments at a metabolic clinic (involving the medical geneticist, metabolic dietitian, social worker, nurse specialist, psychologist, et al.) may not be possible because of travel distance, cost, loss of work days, etc. Coordination with primary care providers, use of telemedicine, and frequent communication by telephone and mail should be employed.
3 A mechanism for assessing dietary intake, whenever BCAA monitoring is done, should be in place.
4 Consensus from the Delphi 1 and 2
5 There are some programs that have monitoring protocols allowing for mail-in samples (using Guthrie cards or small vials) or use of local labs. Such protocols are optimal for increasing the frequency of monitoring.
6 The dinitrophenylhydrazine (DNPH) test is the more accurate test for measuring the branched chain a-ketoacids. If the clinic cannot provide this for home use, then ketosticks are an alternative.
7 There was no consensus from the Delphi 1 and 2 surveys that these tests should be done routinely, but specific circumstances (as listed) may indicate the need for specific tests.
8 Rarely of concern except during pregnancy