Multicenter study on long-term growth in patients with phenylketonuria.

Area of Science:

• Metabolic disorders
• Pediatric endocrinology
• Nutritional science

Background:

• Previous studies on phenylketonuria (PKU) primarily focused on neurological outcomes, with limited and contradictory data on physical development.
• Existing research on PKU physical development often lacks dietary information and covers short time spans.

Purpose of the Study:

• To assess physical development, including growth and obesity incidence, in patients with PKU.
• To investigate the relationship between dietary intake, nutritional status, and physical development in individuals with PKU.

Main Methods:

• A retrospective, multicenter, multinational study involving 182 patients with classical PKU from 8 international centers.
• Collection of longitudinal data on growth parameters and dietary regimens from birth to 18 years.
• Utilized WHO Anthro software for calculating z-scores (weight-for-age, height-for-age, BMI) and assessed dietary intake (phenylalanine, natural protein, Phe-free amino acid mixture).

Main Results:

• Patients with PKU exhibited normal growth patterns based on median height z-scores compared to WHO charts.
• A positive correlation was found between height z-scores and intake of phenylalanine (Phe) and natural protein, particularly in children under 11 years.
• Poorer metabolic control (higher Phe levels) correlated with higher Body Mass Index (BMI), while lower intake of amino acid mixtures was negatively associated with BMI.

Conclusions:

• Satisfactory final physical development in PKU patients is achievable and appears linked to phenylalanine and natural protein intake, necessitating dietary optimization.
• Longitudinal growth data in PKU patients should be collected throughout childhood and adolescence, considering dietary pattern changes.
• Monitoring growth in relation to dietary intake is crucial for managing PKU and ensuring optimal physical outcomes.