March 2015, v.1.12
Current version: v.2.5
Updated: August 2016
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- Overview
- Methodology
- Background
- Biochemical Pathway and Nutrition Treatment Rationale
- Nutrition Assessment
- Comparative Standards
- Nutrition Problem Identification
- Nutrition Intervention
- Nutrition Recommendations
- 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 Laboratory and Clinical Findings in PKU
- T.2 Classification of PKU
- T.3 Recommended Intakes of PHE, TYR and Protein for PKU
- T.4 Nutrition Problem Identification for PKU
- T.5 Comparison of Recommendations for Dietary Protein Intake for Infants and Children under 4 Years of Age to the 2015 GMDI/SERC Guideline Recommendation
- T.6 Classification of Medical Foods for PKU
- T.7 Recommendations for Nutrient Intake and Sources in the Dietary Treatment of PKU
- T.8 Monitoring Nutritional Management of PKU
- T.9 Recommendations for Neurocognitive Testing in PKU
PKU Toolkit Tables- T.10 Recommended Intake of PHE, TYR, Protein and Energy for an Infant with PKU
- T.11 Composition of Breast Milk, Infant Formula, and Medical Food for an Infant with PKU
- T.12 Calculation of Formula Mixture Containing Breast Milk and Medical Food for an Infant with PKU
- T.13 Calculation of Formula Mixture Containing Infant Formula and Medical Food for an Infant with PKU
- T.14 Monitoring Nutritional Management for an Infant with PKU
- T.15 Calculation of Modified Formula Mixture Using Breast Milk for an Infant with PKU
- T.16 Current Daily Nutrient Intake for an Older Infant with PKU
- T.17 Composition of Infant Formula and Medical Food for an Older Infant with PKU
- T.18 Calculation of Daily Nutrient Intake Goals for an Older Infant with PKU
- T.19 Sample Menu Introducing Solid Food for an Older Infant with PKU
- T.20 Recommended Intake of PHE, TYR, Protein and Energy for a Child, Adolescent or Adult with PKU
- T.21 DRI Ranges for Recommended Intake of Protein and Energy for Childhood through Adulthood by Gender and Age
- T.22 Composition of Medical Food for a Child with PKU
- T.23 Calculation of Nutrient Intake Goals for a Child with PKU
- T.24 Sample Menu for a Child with PKU Eating Lunch at School
- T.25 Monitoring Nutritional Management of PKU in a Young Child
- T.26 Composition of Medical Food for a Young Adult with PKU
- T.27 Calculation of Dietary Intake for the Young Adult with PKU
- T.28 Sample Menu for a Young Adult with PKU Transitioning to Self Care
- T.29 Monitoring Nutritional Management of PKU in the Older Child, Adolescent and Adult
- T.30 Sample menu for a Young Adult with PKU Transitioning to Self Care with a Simplified Diet
- T.31 Composition of Medical Food for a Child with PKU Before Taking Sapropterin
- T.32 Calculation of Daily Nutrient Intake Goals for a Child with PKU Before Taking Sapropterin
- T.33 Baseline Blood PHE and PHE Intake for a Child with PKU Before Taking Sapropterin
- T.34 Blood PHE and Dietary PHE Intake for a Child with PKU During a Trial of Sapropterin
- T.35 Calculation of Daily Nutrient Intake Goals for a Child with PKU While Taking Sapropterin
- T.36 Sample Menu Liberalized for a child with PKU While Taking Sapropterin
- T.37 Recommended Intakes of PHE, TYR, Protein and Energy in Pregnancy for a Woman with PKU
- T.38 Composition of Medical Food in Pregnancy for a Woman with PKU
- T.39 Calculation of Daily Nutrient Intake Goals in Early Pregnancy for a Woman with PKU
- T.40 Sample Menu for a Woman with PKU in Early Pregnancy
- T.41 Recommendations for Healthy Weight Gain During Pregnancy
- T.42 Monitoring Nutritional Management of PKU During Pregnancy and Lactation
- T.43 Sample Menu for a Woman with PKU in Late Pregnancy
- References
- Contributors
- Appendix A: Recommendation Rating Definitions
- Appendix B: Terms
- Disclaimer
Derived from evidence and consensus based clinical practice
Regular monitoring of clinical and nutritional status to determine adequacy of nutrient intake, and to guide modifications in the dietary prescription appropriately, is central to management of individuals with PKU. It is important to monitor growth and development, as well as status of micronutrients that are impacted by limited intake of intact protein and adherence with medical food consumption. Hence, clinical monitoring includes assessment of dietary intake, nutrient analysis, growth, and evaluation of clinical signs and symptoms. Biochemical monitoring includes frequent measurements of blood PHE, TYR and PRO status; as well as additional biochemical tests to determine status of at risk nutrients when indicated. This additional testing includes: assessment of essential fatty acids, vitamin D, B12, folate, iron, trace mineral status, and bone status as indicated. The individual's outcome measures are also informed by assessments of neurocognition and quality of life.
Monitor dietary records to assess adequacy of nutrient intake in supporting appropriate growth and nutritional status. If intake is suboptimal, modify individual dietary recommendations and counseling to improve adherence. See TABLE #8, Monitoring Nutritional Management of PKU for monitoring of nutrition management.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |
Monitor age-specific anthropometrics. See Table TABLE #8, Monitoring Nutritional Management of PKU for monitoring of nutrition management.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |
Routinely monitor clinical indicators and biochemical markers for deficiency or excess of nutrients whose intake may not be optimal in an individual on a PHE-restricted diet (PHE, TYR, PRO, iron and vitamin D). See TABLE #8, Monitoring Nutritional Management of PKU for monitoring of nutrition management.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |
Monitor clinical indicators and biochemical markers when indicated by circumstances such as rapid growth, pregnancy, poor compliance with management recommendations, or consumption of an incomplete medical food. See TABLE #8, Monitoring Nutritional Management of PKU for monitoring of nutrition management.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |
Monitor neurocognitive development. See Table TABLE #9, Recommendations for Neurocognitive Testing in PKU for recommended neurocognitive testing for individuals with PKU.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |
Assess quality of life using age- and disorder-specific instruments when possible. See TABLE #8, Monitoring Nutritional Management of PKU for monitoring of nutrition management.
| Insufficient Evidence | Consensus | Weak | Fair | Strong |
| Conditional | Imperative |