Endocrine Abstracts

Introduction: Phenylketonuria (PKU) is a rare inherited metabolic disorder that leads to the toxic accumulation of phenylalanine (Phe) causing usually severe mental retardation and seizures. The basis of the lifelong therapy is low in natural-protein diet and Phe-free amino acid mixtures, that provide the daily necessary amino acids, vitamins and micronutrients, such as Iodine and Selenium. It is not well known, whether the adherence to the therapy can influence the thyroid fu...

Background: The standard, lifelong therapy of phenylketonuria (PKU) is natural protein-restricted diet completed with Phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients, such as iodine and selenium. Our main objective in this study was to assess the iodine and selenium status of patients with PKU, based on their adherence to the low-Phe diet, compared to a healthy control group. Secondly, we aimed to asses whether adherence to therap...