Nutrition Management Guidelines for PKU | Southeast Regional Genetics Network

Management

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PKU Nutrition Management Guidelines

Second Edition
March 2022, v.2.5
Updated: June 2022
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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 intervention for appropriate nutrient intake
- 2. Nutrition intervention to achieve appropriate blood PHE concentration
- 3. Strategies for nutrition intervention
- 4. Monitoring nutrition intervention
- 5. Nutrition intervention with alternative or adjunctive therapies
- 6. Nutrition intervention before, during and after pregnancy
- 7. Pegvaliase Therapy
Monitoring and Evaluation
- Biomarkers to Monitor
Resources
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 Laboratory and Clinical Findings in PKU
- T.2 Classification of PKU
- T.3 Recommended Intakes of PHE, TYR and Protein for PKU Treated with Dietary Therapy
- 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
- T.10 Recommended Dosing Regimen for Pegvaliase
- PKU Toolkit Tables
- T.11 Recommended Intake of PHE, TYR, Protein and Energy for an Infant with PKU
- T.12 Composition of Breast Milk, Infant Formula, and Medical Food for an Infant with PKU
- T.13 Calculation of Formula Mixture Containing Breast Milk and Medical Food for an Infant with PKU
- T.14 Calculation of Formula Mixture Containing Infant Formula and Medical Food for an Infant with PKU
- T.15 Monitoring Nutritional Management for an Infant with PKU
- T.16 Calculation of Modified Formula Mixture Using Breast Milk for an Infant with PKU
- T.17 Current Daily Nutrient Intake for an Older Infant with PKU
- T.18 Composition of Infant Formula and Medical Food for an Older Infant with PKU
- T.19 Calculation of Daily Nutrient Intake Goals for an Older Infant with PKU
- T.20 Sample Menu Introducing Solid Food for an Older Infant with PKU
- T.21 Recommended Intake of PHE, TYR, Protein and Energy for a Child, Adolescent or Adult with PKU on Dietary Therapy
- T.22 DRI Ranges for Recommended Intake of Protein and Energy for Childhood through Adulthood by Gender and Age
- T.23 Composition of Medical Food for a Child with PKU
- T.24 Calculation of Nutrient Intake Goals for a Child with PKU
- T.25 Sample Menu for a Child with PKU Eating Lunch at School
- T.26 Monitoring Nutritional Management of PKU in a Young Child
- T.27 Composition of Medical Food for a Young Adult with PKU
- T.28 Calculation of Dietary Intake for the Young Adult with PKU
- T.29 Sample Menu for a Young Adult with PKU Transitioning to Self Care
- T.30 Monitoring Nutritional Management of PKU in the Older Child, Adolescent and Adult
- T.31 Sample menu for a Young Adult with PKU Transitioning to Self Care with a Simplified Diet
- T.32 Composition of Medical Food for a Child with PKU Before Taking Sapropterin
- T.33 Calculation of Daily Nutrient Intake Goals for a Child with PKU Before Taking Sapropterin
- T.34 Baseline Blood PHE and PHE Intake for a Child with PKU Before Taking Sapropterin
- T.35 Blood PHE and Dietary PHE Intake for a Child with PKU During a Trial of Sapropterin
- T.36 Calculation of Daily Nutrient Intake Goals for a Child with PKU While Taking Sapropterin
- T.37 Sample Menu Liberalized for a child with PKU While Taking Sapropterin
- T.38 Recommended Intakes of PHE, TYR, Protein and Energy in Pregnancy for a Woman with PKU
- T.39 Composition of Medical Food in Pregnancy for a Woman with PKU
- T.40 Calculation of Daily Nutrient Intake Goals in Early Pregnancy for a Woman with PKU
- T.41 Sample Menu for a Woman with PKU in Early Pregnancy
- T.42 Recommendations for Healthy Weight Gain During Pregnancy
- T.43 Monitoring Nutritional Management of PKU During Pregnancy and Lactation
- T.44 Sample Menu for a Woman with PKU in Late Pregnancy
- T.45 Changes in Blood PHE and TYR, Dietary Intake, and Dosage for an Adult with PKU and on Dietary Therapy During a Trial of Pegvaliase
- T.46 Calculation of Dietary Intake for the Young Adult with PKU During Maintenance and Diet Adjustments on Pegvaliase
- T.47 Monitoring Nutritional Management of PKU in the Adolescent or Adult on Pegvaliase Therapy and a Normal Diet
- T.48 Recommended Intake of Protein and Energy for Adolescence through Adulthood by Gender and Age
- T.49 Changes in Blood PHE and TYR, Dietary Intake, and Dosage for an Adult with PKU on an Unrestricted Diet During a Trial of Pegvaliase
- T.50 Calculation of Daily Nutrient Intake Goals for an Adult with PKU Before Response to Pegvaliase Therapy
- T.51 Recommended Intake of PHE, TYR, Protein and Energy for an Adolescent or Adult with PKU on Dietary Therapy
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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Resources

Overview

Educational resources and tools are currently available to support nutrition management of PKU. A toolkit containing additional resources specific to these guidelines has been developed and updated.

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Learning Objectives for Patients/Families

Learning objectives for individuals with PKU and their caretakers include:

Understanding the basic metabolism of PHE and the role of PAH deficiency
Recognizing the need to monitor blood PHE
Recognizing the need for frequent contact with appropriate healthcare providers (e.g. metabolic dietitian, nurse, physician)
Acquiring skills needed to implement the dietary prescription and/or pharmacotherapy
Realizing the importance of strict adherence to the dietary prescription and/or pharmacotherapy
Recognizing the role of medical food in the dietary management
Recognizing the role of adjunct and alternate treatment therapies
Acquiring skills needed to achieve optimal nutritional status when normalization of diet is allowed by pharmacotherapy.

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Resources for patients

A compilation of resources for individuals with PKU and their families developed by National PKU Alliance is available at:

http://npkua.org/Resources.aspx

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Resources for providers

A compilation of resources for metabolic dietitians developed by GMDI is available at:

www.gmdi.org (accessible only by GMDI members)

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