Body Composition and Bone Mineral Quality in Phenylketonuria: Influence of Pubertal Development

Abstract

Background/Objectives: Early diagnosis and a low-Phe diet significantly improved prognosis of PKU patients whose management is now-a-day mostly focused on preventing nutritional imbalances and resulting comorbidities. Puberty is a turning point for the risk to develop overweight and bone quality impairment. The present study aims to evaluate body composition and bone quality in prepubertal and pubertal PKU patients. Subjects/Methods: This is an observational, prospective study on an historical cohort of patients with PKU aged between 4.1 and 18 years, with early diagnosis and continuous protein-restrictive diet treatment. Bioimpedance, weight measurements, height, body mass index calculation, and quantitative ultrasound were collected. Sexual maturity was evaluated by using the Tanner staging. Results: Thirty PKU patients (14 prepubertal, 16 pubertal) were included in the study. Mean BMI was within the normal range in both groups, although fat content was higher in prepubertal, whereas lean mass was higher in the pubertal group who had also a higher total protein content. Among QUS parameters, bone quality index and broadband ultrasound were lower in prepubertal children than in adolescents, with a Z-score BQI within the osteopenia range in both of them. Conclusions: Pubertal patients with PKU develop a higher lean mass and protein content. If on one hand the high non-Phe protein intake in the pubertal period may promote increase in bone mineral quality, on the other hand the higher protein retention, typical of this period, may increase the risk for hyperinsulinism and glucose intolerance in later life. Adjusting dietary management by modulating total protein intake in the peripubertal period could result in better management of PKU patients.