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Early dietary treated patients with phenylketonuria can achieve normal growth and body composition

Júlio C Rocha1, Francjan J van Spronsen, Manuela F Almeida

  • 1Center of Medical Genetics Jacinto de Magalhães, CHP, EPE, Porto, Portugal.

Molecular Genetics and Metabolism
|November 5, 2013
PubMed

Insights

Early treated phenylketonuria patients born after 1992 show normal growth and body composition. However, optimizing protein intake remains crucial for classical phenylketonuria patients to improve height outcomes.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Phenylketonuria (PKU) treatment has evolved, with past overtreatment potentially causing growth impairment.
  • Early diagnosis and treatment are critical for managing PKU and preventing complications.

Purpose of the Study:

  • To evaluate height and body composition in early-treated PKU patients diagnosed between 1981 and 2008.
  • To compare growth and body composition metrics between PKU patients and healthy controls.

Main Methods:

  • A cross-sectional study involving 89 PKU patients and 78 controls.
  • Anthropometric and body composition analysis using bioelectrical impedance.
  • Assessment of metabolic control via phenylalanine (Phe) concentrations and dietary protein intake.

Main Results:

  • No significant height differences in patients under 19 years, though classical PKU patients had negative z-scores (mean ± SD: -0.65 ± 0.41).
  • Adult PKU patients (≥19 years) showed significantly lower height compared to controls (p=0.017).
  • No significant differences in fat mass, fat-free mass, muscular mass, body cell mass index, or phase angle between groups.

Conclusions:

  • Early and continuous PKU treatment initiated after 1992 supports normal growth and body composition.
  • A persistent negative height z-score in classical PKU highlights the need for optimized protein quality in their diet.
  • Continuous monitoring and dietary adjustments are essential for achieving optimal long-term health outcomes in PKU patients.
Abstract

Keywords:
Fat free massFat massHeightNutritional statusPAHPKUPhase anglePhephenylalaninephenylalanine hydroxylasephenylketonuria

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