PO-0094Anthropometric Characteristics And Bone Mineral Density In Patients With Phenylketonuria

BackgroundPhenylketonuria (PKU) treatment requires a diet restricted from natural proteins and supplemented with phenylalanine (Phe)-free L-amino acid mixtures. Growth impairment and compromised bone mass have been described.This study aims to evaluate anthropometric characteristics and bone mineral density (BMD) in a cohort of PKU patients.MethodsWe conducted a retrospective longitudinal study collecting anthropometric characteristics (weight, height, body mass index (BMI) and BMD every 6 months from birth to 12 years of age in 34patients with diet restrictions.We compared the data results, expressed as z-scores, with the general population, as well as between patients with Phe 360 mmol/ml.ResultsOur PKU patients are shorter than the reference population; the sample mean was below z-score=0. Weight was comparable to that of the reference population and BMI had a tendency to be over the population mean.Growth impairment in PHA-deficiency is not related to plasma Phe concentration at birth but might be related to its levels throughout the follow up; patients with