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Recent Advances in Phenylketonuria: A Review

Andrea M Zuñiga Vinueza1

  • 1School of Medicine, Catholic University of Santiago of Guayaquil, Guayaquil, ECU.

Cureus
|July 17, 2023
PubMed

Insights

Phenylketonuria (PKU) is an inborn error of metabolism affecting phenylalanine levels. Early diagnosis and improved treatments are crucial for optimizing outcomes in PKU patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of metabolism represent a significant health concern.
  • Phenylketonuria (PKU) is a well-characterized genetic disorder resulting from phenylalanine hydroxylase (PAH) deficiency.
  • Mutations in the PAH gene disrupt phenylalanine metabolism, leading to health complications.

Purpose of the Study:

  • To review recent advancements in the diagnosis and treatment of phenylketonuria (PKU).
  • To analyze the impact of PAH gene mutations on phenylalanine metabolism.
  • To highlight the importance of early detection and management strategies for PKU patients.

Main Methods:

  • A comprehensive literature review of 40 articles published between 2019 and 2023.
  • Analysis of studies focusing on diagnostic innovations, treatment strategies, and long-term PKU management.
  • Synthesis of current knowledge on PAH gene mutations and their metabolic consequences.

Main Results:

  • Significant innovations in PKU screening and diagnostic methods have emerged.
  • Advancements in treatment and management strategies offer improved patient outcomes.
  • Understanding of PAH gene mutations and their role in phenylalanine metabolism has deepened.

Conclusions:

  • Early diagnosis of PKU is critical for effective management.
  • Ongoing research into screening methods and therapeutic approaches is essential for optimizing patient care.
  • This review provides valuable insights for healthcare professionals managing children with PKU.

Keywords:
diagnosisinfantmanagementneonatalphenylketonuria

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