Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers

TL;DR

This study compares growth patterns in children with PKU and healthy controls in Romania, finding that PKU patients have lower weight-for-age scores despite normal overall growth.

Contribution

The study provides new insights into growth outcomes in PKU patients through longitudinal comparison with matched controls.

Findings

Median values of growth metrics remained within normal range for PKU patients.

Weight-for-age z-scores were significantly lower in PKU patients compared to controls (p < 0.001).

Ongoing dietary adjustments may be needed to optimize growth in PKU patients.

Abstract

Background and Objectives: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these patients. Materials and Methods: Eighteen patients with PKU from two Romanian reference centers were compared to eighteen non-PKU controls, matched for age and gender. The comparisons used weight-for-height, weight-for-age, height/length-for-age, and body mass index-for-age z-scores from birth to three years of age. Results: The PKU study group consisted of nine boys and nine girls, with a median follow-up period of thirty-six months (interquartile range = 9.75). While median values of all four growth metrics remained within the normal range across the entire study period, weight-for-age z-scores were significantly lower in PKU patients throughout most of the study (p < 0.001). Conclusions: The persistent lower weight-for-age z-scores of the PKU patients compared to controls indicate that ongoing monitoring and potential adjustments in dietary therapy may be necessary to further optimize growth outcomes.

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