Courses

The Journey of PKU Management: Where Are We?

Presenter: Rani H Singh, PhD, RDN, LD

Program Date: 29 May 2025

Publication Date: 17 December 2025

Continuing Education Credits: Nurse Contact 1.0 CE; Dietitian 1.0 CPEU

Course Description

Explore how PKU care has come a long way, from dietary control to advanced therapies and personalized approaches. This program explores the evolution of treatment, emerging options like enzyme and gene therapy, and why nutrition remains essential for lifelong management. Gain practical insights to prepare for the future of PKU care and optimize patient outcomes. This program was originally presented at the 2025 Abbott Metabolic Conference.

Course Objectives:
  • Analyze the evolution of phenylketonuria (PKU) management, tracing the progression from early dietary interventions to contemporary practices.
  • Explore new treatments for PKU, including enzyme substitution therapy and gene therapy.
  • Assess potential benefits and risks of PKU treatments and examine their impacts on overall patient health.
Key Takeaways:
  • From early dietary interventions in the 1950s to modern approaches, PKU care now includes specialized medical foods, pharmacologic therapies, and emerging gene-based treatments.
  • Newborn screening remains critical for early diagnosis and prevention of irreversible neurological damage from PKU.
  • The PKU diet is phenylalanine-controlled, not protein-free, relying on medical foods to meet nutritional needs and support growth, cognition, and overall health.

Performance Indicators: 5.2.1, 5.2.6, 9.2.3

Activity Code: 190630

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Related Questions:
  • What role does nutrition play in PKU care?
    Nutrition remains the cornerstone of treatment, providing essential nutrients while controlling phenylalanine intake. Each patient’s genetic profile, metabolic tolerance, and lifestyle influence dietary needs. By using genotype-phenotype correlations, clinicians can tailor formula selection, adjust protein allowances, and integrate emerging therapies. This individualized approach ensures optimal metabolic control, protects brain health, and improves quality of life across all stages.
  • Why is early diagnosis so important for PKU patients?
    Early diagnosis, ideally within the first 10 days of life, is critical because it prevents irreversible neurological damage. Elevated phenylalanine levels interfere with brain development by limiting neurotransmitter synthesis and protein formation. If treatment starts later, even after one year, the outcomes differ significantly compared to those who were diagnosed and treated early.
  • What challenges do patients face with PKU management?
    Patients with PKU face numerous challenges that make lifelong management difficult. The diet is highly restrictive and socially burdensome, requiring avoidance of most natural protein sources and reliance on specialized medical foods and low-protein modified products, which can be expensive and difficult to access. Managing PKU is also time-consuming, involving meticulous meal planning, frequent blood phenylalanine monitoring, and regular dietary adjustments. Psychosocial factors such as neophobia (fear of new foods), social isolation during meals, and stigma around dietary restrictions further complicate adherence. Additionally, access to trained metabolic specialists and consistent availability of medical foods vary by region, creating disparities in care.

Course Instructor Bio(s)

Rani H Singh, PhD, RDN, LD

Professor, Emory University
Department of Human Genetics
Atlanta, GA, USA

Rani H Singh, PhD, RDN, LD, is a Professor of Human Genetics and Pediatrics and Director of the Genetic Metabolic Nutrition Program at Emory University. She has over 25 years of research and clinical experience in the field of inborn errors of metabolism. Her clinical research interests include restricted diets, genotype-phenotype relationships, and the benefits of early metabolic identification. She's also the Primary Investigator of the HRSA grants on enhanced genetic screening, the founding member of GMDI, and the co-Primary Investigator with Fran Rohr for the Evidence-Based Nutrition Guidelines for Inborn Errors of Metabolism.

Category
CE CPEU Neonatal Disease State
Highlighted References:
  • van Spronsen FJ, et al. Nat Rev Dis Primers. 2021;7(1):36.
  • Singh RH, et al. Mol Genet Metab. 2016;118(2):72-83. 
  • Camp KM, et al. Mol Genet Metab. 2014;112(2):87-122.
  • Daly A, et al. Nutrients. 2021;13(2):484. 
  • Cunningham A, et al. Orphanet J Rare Dis. 2023;18(1):155.
  • van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017;12(1):162.

Abbott Nutrition’s Provider Statement for Nursing CEs:

Abbott Nutrition Health Institute is an approved provider of continuing nursing education by the California Board of Registered Nursing Provider #CEP 11213.

Abbott Nutrition’s Statement for Dietitian CPEUs:

This educational activity has been prior-approved by the Commission on Dietetic Registration (CDR). CDR credentialed practitioners will receive the specified continuing professional education units (CPEUs) for completion of this program/material.