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Adherence to diet and quality of life in patients with phenylketonuria

G Cotugno1, R Nicolò, S Cappelletti

  • 1Division of Metabolic Diseases, Bambino Gesù Children's Hospital, Rome, Italy. giovanna.cotugno@opbg.net

Acta Paediatrica (Oslo, Norway : 1992)
|February 24, 2011
PubMed

Insights

Adherence to dietary treatment in phenylketonuria (PKU) is suboptimal, with over 40% of patients not meeting prescribed phenylalanine intake. Quality of life (QoL) is reduced in children and adolescents with PKU.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Metabolic Disorders

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder requiring strict dietary management.
  • Dietary adherence and its impact on quality of life (QoL) in PKU patients are critical areas for research.
  • Early diagnosis and treatment are essential for managing PKU and preventing complications.

Purpose of the Study:

  • To investigate adherence to dietary treatment in patients with phenylketonuria (PKU).
  • To assess the quality of life (QoL) in PKU patients.
  • To explore the relationship between dietary adherence, metabolic control, and QoL in PKU.

Main Methods:

  • A cross-sectional study was conducted with 41 early-treated PKU patients over 3 years old.
  • Dietary assessment using a 3-day recall was performed.
  • QoL was evaluated using validated questionnaires (Child Health Questionnaire and Short Form).

Main Results:

  • Over half (56.1%) of PKU patients showed inadequate adherence to dietary phenylalanine restrictions.
  • Lower maternal education level correlated with higher phenylalanine intake.
  • QoL was diminished in pediatric and adolescent PKU patients, with limited correlation to adherence.

Conclusions:

  • Improving dietary adherence is crucial for PKU management.
  • Enhancing QoL in children and adolescents with PKU requires targeted interventions.
  • Further research is needed to understand factors influencing adherence and QoL in PKU.
Abstract

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