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Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and

Alex S Aguirre1, Edison Haro1, Alberto Campodónico1

  • 1School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

Frontiers in Nutrition
|July 11, 2024
PubMed

Insights

Phenylketonuria (PKU) management requires lifelong low-phenylalanine diets and multidisciplinary care. Latin America faces challenges in PKU care, including limited resources and healthcare access, necessitating collaborative efforts for improved patient outcomes.

Area of Science:

  • Metabolic Disorders
  • Neurodevelopmental Disorders
  • Genetics

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine metabolism and neurodevelopment.
  • Effective PKU management relies on lifelong adherence to low-phenylalanine diets and comprehensive multidisciplinary care.
  • Latin America presents unique challenges in PKU care, including fragmented newborn screening and resource limitations.

Purpose of the Study:

  • To systematically review current PKU management guidelines and practices.
  • To identify key principles and challenges in PKU care, particularly within the Latin American context.
  • To inform strategies for enhancing PKU diagnosis and management in the region.

Main Methods:

  • A systematic literature review was conducted from 2010 to 2023, adhering to PRISMA guidelines.
  • Inclusion criteria focused on PKU management guidelines and PKU care in Latin America, published in English or Spanish.
  • A rigorous screening process identified 6 relevant articles from over 127,000 initial results.

Main Results:

  • Key management principles include multidisciplinary teams, lifelong dietary adherence, personalized care plans, and regular monitoring.
  • Regional variations, challenges in breastfeeding, and specific needs of pregnant women with PKU were highlighted.
  • Latin American PKU care is impacted by healthcare gaps, resource scarcity, and reliance on international protocols.

Conclusions:

  • Multidisciplinary care involving physicians, dietitians, psychologists, and genetic counselors is crucial for optimal PKU management.
  • Addressing healthcare gaps, resource limitations, and promoting regional collaboration are essential for improving PKU care in Latin America.
  • Enhanced awareness, specialized training, and international partnerships can significantly improve diagnosis and long-term outcomes for individuals with PKU.
Abstract

Keywords:
Latin Americachallengesguidelinesmultidisciplinary carenutritionphenylketonuria

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