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PKU Nutrition Management Guidelines
Second Edition
March 2022, v.2.4
Updated: March 2022
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Contributors
Key Project Personnel

Nutrition Guidelines Project Principal Investigators: 

  • Rani Singh, PhD, RD
    Emory University, Dept. of Human Genetics

  • Fran Rohr MS, RD
    Boston Children's Hospital

Nutrition Guidelines Project Workgroup Chairs

  • Amino Acidopathies: Dianne Frazier, PhD, RD
  • PKU: Amy Cunningham, MS, RD and Shideh Mofidi, MS, RD
  • Organic Acidopathies: Keiko Ueda, MS, RD and Elaina Jurecki, MS, RD
  • Fatty Acid Oxidation Disorders: Fran Rohr, MS, RD and Sandy Van Calcar, PhD, RD

Original PKU Workgroup Members:

  • Amy Cunningham, MS, RD, LDN (Co-Chair)
    Metabolic Nutritionist; Tulane Hayward Genetics Center

  • Debra Geary Hook, MPH, RD, FAND
    Metabolic Dietitian; Children's Hospital Los Angeles
  • Laura Jeffers, MEd, RD, LD
    Outpatient Nutrition Manager/Regional Operations; Cleveland Clinic

  • Helen McCune, MS, RD
    Clinical Dietitian; University of Florida, Pediatric Genetics and Metabolism

  • Shideh Mofidi, MS, RD, CSP (Co-Chair)
    Metabolic Nutritionist & Clinical Care Coordinator; Maria Fareri Childrens Hospital at Westchester Medical Center

  • Kathryn Moseley, MS, RD
    Assistant Professor of Pediatrics; USC/Keck School of Medicine

  • Beth Ogata, MS, RD, CSP
    Lecturer, Dietitian; University of Washington

  • Surekha Pendyal, MEd,RD
    Metabolic Nutritionist; University of North Carolina, Chapel Hill
  • Jill Skrabal, MS, RD, LMNT
    Inborn Errors of Metabolism Nutrition Specialist; Nebraska Medicine/Children's Hospital & Medical Center

  • Ann Wessel, MS, RD, LDN
    Clinical Nutrition Specialist, Metabolism; Boston Children’s Hospital

Original Delphi I Participants

  • 11 Dietitians and 6 Physicians participated in the first PKU Delphi survey.

Original Nominal Group Process Experts:

  • Shawn McCandless, MD; University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine
  • Christine Brown, MS; National PKU Alliance
  • Can Ficicioglu, MD; Children's Hospital of Philadelphia
  • Valerie Austin, RD; Hospital for Sick Children, University of Toronto
  • Kathleen Huntington, MS, RD; Oregon Health & Science University
  • Tarine Weihe, MS, RD; Children's Mercy Hospitals & Clinics
  • Rita Livingston, MD, MPH; Concentra Occupational Medical Clinic, Savannah GA
  • Erin Macleod, PhD, RD, LD; Children's National Health System

Original Delphi II Participants

  • 15 Dietitians and 6 Physicians participated in the second PKU Delphi survey.

Original External Review Participants

  • 7 individuals participated in the external review of the PKU Management Guidelines. They included relevant stakeholders such as dietitians and physicians who provided an assessment of the Guidelines for Nutrition Management of individuals with PKU.

Question 7 PKU Workgroup Members:

  • Amy Cunningham, MS, RD, LDN (Chair)                                                                                                                                             Metabolic Nutritionist, Tulane University Hayward Genetics Center
  • Heather Bausell, RD, LDN                                                                                                                                                                   Metabolic Nutrition, Lurie Children's Hospital
  • Joyanna Hansen, PhD, RD, LD                                                                                                                                                         Metabolic Dietitian, Oregon Health and Science University
  • Shideh Mofidi, MS, RD, CSP                                                                                                                                                              Metabolic Nutritionist & Clinical Care Coordinator, Maria Fareri Childrens Hospital at Westchester Medical Center

Question 7 Delphi Surveys

The Question 7 Delphi surveys were sent to 4 medical doctors, 4 nurse practitioners, and 17 registered dietitians who specialize in inherited metabolic disorders.

Question 7 Nominal Group

  • Brittany Herrin, RDN, LD, Senior Clinical Coordinator, Biomarin
  • Brittany Holmes, APRN, nurse practitioner, Yale University Department fo Genetics
  • Cary Harding, MD, Professor, Oregon Health & Science University
  • Christine Brown MS, National PKU Alliance
  • Hans Andersson, MD, medical geneticist, Professor of Human Genetics and Director of the Hayward Genetics Center at the Tulane University Medical School
  • Hope Northrup, MD, medical geneticist, Professor, University of Texas, McGoven Medical School
  • Janette Skaar, RD, CSP, CNSC, CLE, pediatric clinical dietitian, CHOC Children's
  • Krista Viau, PhD, RD, nutritionist, Infant Formula and Medical Foods Staff, FDA
  • Sommer Gaughan, RD, CSP, metabolic dietitian, University of Colorado Health Science Center
  • Stephanie Sacharow, MD, medical geneticist, Harvard Medical School

Experts included at different steps included clinicians (geneticists, primary care physicians, and dietitians), researchers, and consumers (parents of children with PKU, adult patients).

Nutrition Guidelines Project Staff

  • Project Consultant:  Patricia Splett, PhD, RD;  Splett & Associates and University of Minnesota;
  • Application Developer:  Adrya Stembridge; Emory University, Dept. of Human Genetics
  • Project Managers: Yetsa Osara, MPH; Lauren Wright, MS, RDN, and Aileen Kenneson-Adams, PhD, MS; Emory University, Dept. of Human Genetics
  • Lead Evidence Analysts:  Katie Coakley, MS, RD, LD, Alana Aisthorpe, and Aileen Kenneson-Adams, PhD, MS; Emory University, Dept. of Human Genetics
  • Advisor: Phyllis Acosta, PhD, RD
  • Reference Librarians:  Barbara Abu-Zeid and Jeremy Kupsco; Emory University, Health Sciences Center Library

Nutrition Guidelines Project Core Group

  • Principal Investigators
  • Project Manager
  • Application Developer
  • Workgroup Chairs
  • GMDI President
  • Project Consultant

The work of the Nutrition Management Workgroup for the NIH 2012 State of the Science Conference, and the subsequent summary paper, was instrumental in the development of this guideline (F.2629).

All project personnel and workgroup members submitted a conflict of interest statement approved by Emory University’s Institutional Review Board.

Potential Conflict of Interest Disclosure

  • Dianne Frazier, PhD, RD - served as a consultant for Nutricia North America.
  • Amy Cunningham, MS, RD, LDN  - participated in/ or received research funding for independent investigator studies related to PAH deficiency and is a consultant for or served on advisory boards for BioMarin Pharmaceuticals and Merck and Company.
  • Shideh Mofidi, MS, RD, CSP - served on the advisory board for the PKU Demographics, Outcomes and Safety Registry (PKUDOS) sapropterin postmarketing patient registry and is a consultant dietitian for BioMarin.
  • Fran Rohr, MS, RD - participated in and/or received research funding for clinical trials related to PAH deficiency and has served as a consultant for Nutricia North America.
  • Rani H. Singh, PhD, RD - participated in and/or received research funding for clinical trials related to PAH deficiency.
  • Pat  Splett, PhD, RD - has no disclosures.
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