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Semi-Targeted Ultra-High-Performance Chromatography Coupled to Mass Spectrometry Analysis of Phenolic Metabolites in Plasma of Elderly Adults
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Blood phenylalanine control in phenylketonuria: a survey of 10 European centres

K Ahring1, A Bélanger-Quintana, K Dokoupil

  • 1Department of PKU, Kennedy Centre, Glostrup, Denmark.

European Journal of Clinical Nutrition
|December 2, 2010
PubMed

Insights

Blood phenylalanine (Phe) control in European phenylketonuria (PKU) patients on a low-Phe diet generally declined with age, with notable improvements in adolescents. Blood Phe levels were comparable across centers, regardless of treatment variations.

Area of Science:

  • Metabolic disorders
  • Genetics
  • Clinical nutrition

Background:

  • Limited data exists on blood phenylalanine (Phe) concentrations in European phenylketonuria (PKU) patients adhering to low-Phe diets.
  • Phenylketonuria (PKU) requires lifelong dietary management to prevent neurological damage.

Purpose of the Study:

  • To compare blood Phe control in diet-treated PKU patients across different age groups in 10 European centers.
  • To assess the effectiveness of low-Phe diets in managing PKU in a diverse European population.

Main Methods:

  • A retrospective audit of 1921 PKU patients from 10 European countries was conducted.
  • Data collected included median blood Phe concentrations, adherence to target ranges, and frequency of blood sampling.
  • Standardized data collection ensured comparability across participating centers.

Main Results:

  • Blood Phe concentrations were well-controlled and similar across centers in early life.
  • Target Phe ranges were met by 88% of infants, 74% of children (1-10 years), 89% of adolescents (11-16 years), and 65% of adults (>16 years).
  • Home blood sampling frequency decreased with age, from ~100% in infancy to 55% in adults.

Conclusions:

  • Blood Phe control generally deteriorates with age, though adolescents showed some improvement.
  • Phe control was comparable across European centers, irrespective of dietary approaches or national policies.
  • Age-related decline in monitoring and adherence may impact long-term PKU management.
Abstract

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