Aria Setoodeh - Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Samaneh Onsori - Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Parastoo Rostami - Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Ali Rabbani - Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Farzaneh Abbasi - Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
Fatemeh Sayarifard - Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
Reza Tavakolizadeh - Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran. Maternal, Fetal & Neonatal Research Center, Family Health

Background: Factors like low-protein diet may impose Phenylketonuria (PKU) patients to impaired skeletal disease. The present study assessed the status of Bone Mineral Density (BMD) among PKU patients on a low-protein diet. Methods: A cross-sectional study was conducted (Tehran, Iran, ۲۰۱۹). Patients aged ≥ ۴ years old with a definite diagnosis of PKU on a low-protein diet were included. BMD values of the lumbar spine and femoral neck were assessed. The primary objective was assessing femoral and lumbar BMD status in PKU patients. Results: Forty-one PKU patients entered the study. The mean BMI was ۲۰.۷۱۲±۴.۸۳۳ Kg/m۲. The mean bone age was significantly lower than chronological age (۱۰.۹ vs. ۱۲.۴ years; P=۰.۰۰۸). The results showed a bone mass reduction in ۲۳.۱% of all patients.  A significant correlation was observed between lumbar and femoral BMD values (P=۰.۰۰۱; r=۰.۵۱۶). Most patients (about ۷۷%) had lumbar Z-scores>-۱ and ۱۰.۳% showed Z-scores in the range of osteoporosis. Age (P=۰.۰۰۴) and age at diagnosis (P=۰.۰۰۲) were the influencing factors on BMD status. The results showed a significantly inverse correlation between BMD lumbar levels with the patient’s chronological age (P=۰.۰۱۶), age of PKU diagnosis (P=۰.۰۰۲), and phenylalanine level (P=۰.۰۲۵) Conclusion: The results delineated impaired skeletal status among PKU patients on a low-protein diet. Lumbar Z-score values inversely correlated with the patient’s chronological age, age at PKU diagnosis, and phenylalanine level. Hence, early PKU diagnosis and treatment during neonatal period, as well as controlling phenylalanine concentration may improve BMD status.

PKU, BMD, Phenylketonuria, Osteopenia, Osteoporosis