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Nutrition Management Guideline for Phenylketonuria (PKU)

Genetic Metabolic Dietitians International (GMDI) and The Southeast Regional NBS & Genetics Collaborative (SERC) are proud to announce the publication of the Nutrition Management Guideline for Phenylketonuria (PKU). This is part of a multi-year project to develop evidence- and consensus-based guidelines for nutrition management of inborn errors of metabolism (IEM). The PKU guideline is now publically available online to all metabolic dietitians, physicians, and other clinicians.

A link to the PKU guideline is found with the other guidelines developed by GMDI.(click here to view the GMDI-developed guidelines)

The Nutrition Guideline project developed an extensive methodology to provide evidence- and consensus-based standard of care guidelines for nutritional management of inborn errors of metabolism. This process included a review of the literature, 2 Delphi surveys and a nominal group of expert clinicians and stakeholders.

The guidelines include a summary of evidence and consensus guided by six research questions (see below). In addition, practical management information is summarized in several tables within the guidelines. A PKU toolkit based on these guidelines that will include case studies and more hands-on guidance is under development and will be available soon.


PKU Guideline Research Questions

  1. For individuals with PKU what nutrient intakes are associated with positive outcomes?
  2. For individuals with PKU what blood phenylalanine concentration is associated with positive outcomes?
  3. For individuals with PKU which nutrition interventions are associated with positive outcomes?
  4. For individuals with PKU monitoring of which parameters is associated with positive outcomes?
  5. For individuals with PKU whose therapy includes adjunctive therapy or other therapy options (sapropterin or large neutral amino acids) what dietary considerations are needed for positive outcomes?
  6. For women with PKU, what nutritional therapies are associated with positive outcomes during pregnancy planning, pregnancy, and the post-partum period (including lactation)?

Many in academic and clinical arenas, as well as from the consumer community, have contributed to this project. A special thanks goes out to those GMDI members who have committed a significant amount of time and effort to develop the PKU Management Guideline, in order to benefit all of us in our clinical practice.






The PKU guideline workgroup is co-chaired by Amy Cunningham and Shideh Mofidi.

Workgroup members include Debra Hook, Helen McCune, Kathryn Moseley, Beth Ogata, Surekha Pendyal, Jill Skrabal, and Ann Wessel.

Rani Singh is project Principal Investigator, Fran Rohr the Co-investigator.

Consultants are Dianne Frazier and Pat Splett.




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