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Updated: May 13, 2026

Semi-Targeted Ultra-High-Performance Chromatography Coupled to Mass Spectrometry Analysis of Phenolic Metabolites in Plasma of Elderly Adults
14:39

Semi-Targeted Ultra-High-Performance Chromatography Coupled to Mass Spectrometry Analysis of Phenolic Metabolites in Plasma of Elderly Adults

Published on: April 22, 2022

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

Carol Hartnett1, Ramona Salvarinova-Zivkovic, Eva Yap-Todos

  • 1Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, BC, Canada.

Molecular Genetics and Metabolism
|March 8, 2013
PubMed

Insights

Phenylketonuria (PKU) management shows suboptimal blood phenylalanine control in many patients, with only 40% achieving target levels. Regular audits are recommended for PKU clinics to improve treatment outcomes.

Area of Science:

  • Metabolic Disorders
  • Genetics
  • Pediatric Endocrinology

Background:

  • Classical phenylketonuria (PKU) requires lifelong management of blood phenylalanine (Phe) levels.
  • Early diagnosis and centralized care are crucial for PKU patients.

Purpose of the Study:

  • To retrospectively review blood Phe control in PKU patients.
  • To analyze Phe control across different age treatment periods.
  • To identify factors influencing treatment outcomes.

Main Methods:

  • Retrospective review of 33 classical PKU patients (born 1991-2009).
  • Analysis of blood Phe concentrations within treatment ranges over lifetime treatment periods.
  • Comparison of Phe control across age groups (1 month-12 years).

Main Results:

  • Approximately 40% of patients achieved >60% of blood Phe concentrations within the target range.
  • No significant differences in Phe control were observed across different age treatment periods.
  • A correlation was found between Phe tolerance and percentage of Phe concentrations within the treatment range.
  • Patients born between 1991-1999 exhibited poorer Phe control compared to later-born cohorts.

Conclusions:

  • Suboptimal blood Phe control persists in a significant portion of PKU patients despite early diagnosis and centralized care.
  • Frequent quality assurance audits are recommended to assess and improve treatment outcomes in PKU clinics.

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