PKU Nutrition Management Guidelines
Second Edition
March 2022, v.2.5
Updated: June 2022
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Nutrition Guidelines Project

The PKU Nutrition Management Guideline is part of a larger project undertaken by the Southeast Regional Genetics Network – HRSA Region 3 (SERN) and the Genetic Metabolic Dietitians International (GMDI) to develop nutrition management guidelines for inherited metabolic disorders (IMD).


The purpose of this guideline is to foster optimal nutrition management of individuals with PKU and reduce the uncertainty and variability in the management of this disorder to allow for best outcomes.

Target Population

The target population includes individuals with PKU at all life stages from the newborn period, through childhood and adolescence, to ongoing management in adult years, and during pregnancy. It also includes guidance for individuals who were late-diagnosed or are returning to treatment and those pairing dietary treatment with other treatment modalities.

Intended Users of the Guidelines

The guideline is intended for use by all who provide care and advice for individuals with PKU, including: metabolic dietitians, physicians, and other health-care professionals, researchers, industry partners, public health personnel, third party health care payers, and PKU advocacy groups.

Sponsor Organization

The development of nutrition guidelines is a joint effort between the Southeast Regional Genetics Network (SERN) and Genetic Metabolic Dietitians International (GMDI).


Funding for this project has been provided to SERN by the Health Resources and Services Administration (HRSA): grant # H46MC24090. GMDI received an unrestricted education grant from National PKU Alliance for partial funding of a dietitian consultant and the Nominal Group meetings.

Content Highlights

Contents of the guideline include:

  • Methodology used for development of the evidence- and consensus-based guideline
  • Background about PKU: diagnosis, biochemical pathway, nutrition treatment rationales
  • Description of nutrition care in management of PKU including: assessment, nutrition problem identification, nutrition intervention using evidence- and consensus-based recommendations, monitoring and evaluation of outcome, and incorporating adjunct and alternate therapy modalities 
  • Rating of all recommendations based on the strength of the evidence
  • Suggested implementation of the guideline recommendations
  • Areas needing further research through collaborative studies