The objectives of this work were to gather relevant information on phenylketonuria, highlighting the cause, symptoms, dietary treatment, national and international prevalence and to identify the situation of this metabolic disorder in Brazil. Data were obtained from the National Ministry of Health and phenylketonuria treatment units in Brazil. In this study, 1225 people who received control and assistance for the disease were included. One of the main problems detected was that in most of Brazil, phenylketonuria patients have to leave their home state seeking more qualified treatment centers. In the Northern and Northeastern Regions, little information is available. The results obtained lead to the conclusion that neither newborn screening, nor phenylketonuria treatment centers cover all of the Brazilian cases. Advances in organizing data and actions regarding phenylketonuria have been taking place. Specific foods are restrict and costly. New options are being researched, nevertheless, there is much to be done, mainly on food research and production.
metabolism; inborn errors; Phenylketonuria; neonatal screening
