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New insights in growth of phenylketonuric patients

María L Couce1, Ipek Guler, Andrés Anca-Couce

  • 1Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Choupana s/n,, 15706, Santiago de Compostela, A Coruña, Spain, maria.luz.couce.pico@sergas.es.

European Journal of Pediatrics
|November 5, 2014
PubMed

Insights

Phenylketonuria (PKU) dietary management can lead to normal growth, but PKU females experience accelerated growth until age 8, resulting in slightly shorter final height. Advanced statistical models detected this growth pattern.

Area of Science:

  • Metabolic disorders
  • Pediatric endocrinology
  • Human growth and development

Background:

  • Phenylketonuria (PKU) treatment requires protein restriction, potentially impairing growth.
  • Monitoring anthropometric data is crucial for assessing long-term health outcomes in PKU patients.

Purpose of the Study:

  • To analyze the long-term growth patterns (weight, height, BMI) in individuals with PKU and mild HPA.
  • To compare growth trajectories between PKU and mild HPA patients and the general population.
  • To identify age, sex, and phenotype-specific growth differences.

Main Methods:

  • Longitudinal retrospective data collection over 31 years for 109 patients from birth to 18 years.
  • Biometric measurements (weight, height, BMI) recorded every 6 months.
  • Advanced statistical analysis of anthropometric z-scores, including nonlinear mixed-effects models.

Main Results:

  • No significant long-term anthropometric differences were observed between PKU and mild HPA individuals compared to the general population.
  • PKU individuals showed a trend towards slightly lower height and higher weight than controls, but within one standard deviation.
  • Female PKU patients exhibited distinct height z-score evolutions, with a significant crossover point between 8 and 12 years (p=0.0186).

Conclusions:

  • Appropriate dietary management enables normal long-term growth in PKU patients.
  • PKU females experience growth acceleration up to age 8, leading to a slightly reduced final height.
  • Nonlinear mixed-effects models effectively detected these specific growth behaviors in PKU females.
Abstract

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