Management
Guidelines
Portal
PKU Nutrition Management Guidelines
First Edition
March 2015, v.1.12
Updated: August 2016
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Nutrition Recommendations
Question
3. For individuals with PKU which nutrition interventions are associated with positive outcomes?
Conclusion Statement
Derived from evidence and consensus based clinical practice

Individuals with PKU who adhere to treatment that maintains blood PHE within the recommended treatment range of 120-360 µmol/L throughout their lifespan have optimal outcomes as measured by quality of life, neurocognitive development, and nutritional and medical well-being. Adherence to the complex treatment is improved by various intervention strategies. No single strategy, or combination of strategies, is appropriate for all individuals under all circumstances. Healthcare providers should partner with the individual in decisions regarding choice of medical food and timing of intake, use of breast milk or formula by bottle or feeding from the breast, timing and process of weaning, means of tracking and adjusting dietary PHE, and coping strategies for adhering to diet when away from home. Educational or instructional opportunities must be individualized to the individual’s or caregiver’s educational level, cultural norms, experience, motivation, and financial resources. Age-appropriate instruction can help children begin to assume responsibility for diet management, and guide adolescents in the transition from a pediatric to adult clinic. Effort must be made to assure all patients have access to appropriate care, monitoring, and medical and low-protein foods. Identifying off-diet adults and encouraging initiation or resumption of treatment has proven difficult, but those who have been able to reduce blood PHE have had positive outcomes.

Recommendation 3.1

Choose medical foods to meet recommended nutrient intake and achieve optimal adherence. When incomplete medical foods are chosen, ensure that vitamin, mineral, energy, and/or fat intake is supplemented from other sources when necessary.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.2

Advise consumption of medical food throughout the day, in several well-spaced intervals, to allow optimal blood PHE concentrations and dietary PHE tolerance.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.3

Encourage use of breast milk, when possible, either from direct breast feeding or use of expressed breast milk, as the source of PHE (and intact protein) in infants.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.4

Gradually introduce solids, to replace the equivalent amount of PHE/intact protein in infant formula or breast milk, when the infant is developmentally ready (usually at 4-6 months of age).

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.5

Minimize elevation of blood PHE during illness by treating the underlying illness, meeting protein and energy needs, and preventing dehydration and electrolyte imbalance.

 

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.6

Ensure appropriate PHE intake in individuals with PKU by having accurate data regarding PHE content of foods, and effective and convenient methods of planning and monitoring dietary PHE intake.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.7

Encourage all individuals to follow treatment recommendations throughout their lives; including those who have relaxed their diet restrictions and those who have never been treated. Recognize and address individual barriers that may impede success.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
Recommendation 3.8

Adopt clinic procedures that enhance adherence to the nutritional recommendations of “diet for life” by providing individualized educational strategies, referrals to appropriate social service and mental health professionals, age-appropriate group activities, and a plan for transition from pediatric to adult clinical services.

Strength of Recommendation:
Insufficient EvidenceConsensusWeakFairStrong
Clinical Action:
ConditionalImperative
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