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


ABSTRACT:

Introduction

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from phenylalanine hydroxylase deficiency, which impacts neurodevelopment. Lifelong low-phenylalanine diets and multidisciplinary care are pivotal for managing PKU. Latin American challenges in PKU care include diverse newborn screening programs, limited specialized healthcare, and resource scarcity.

Methods

A systematic literature review was conducted (2010-2023) on PKU management following PRISMA guidelines. Inclusion criteria encompassed English/Spanish articles focusing on PKU management guidelines approved by an organization as well as articles focusing on PKU management in Latin America. After screening 127,276 results, 6 articles were included.

Results

Six articles were an

SUBMITTER: Aguirre AS 

PROVIDER: S-EPMC11236298 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature