Overview of neonatal screening for phenylketonuria in Brazil

Abstract

Objectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology: An electronic search was made in LILACS, employing the terms “neonatal screening” and “Brazil” and “Phenylketonuria”. Ten papers were selected for reading because they met the established criteria. Results: The studies were conducted in the states of Sergipe, Tocantins, Bahia, Rio de Janeiro, Santa Catarina, Mato Grosso and São Paulo, and the coverage ranged from 32.3% to 95%. Publications on the situation of neonatal screening for phenylketonuria are scarce in several states of our country, making it difficult to generalize and compare the data. Conclusions: Screening for phenylketonuria needs to be improved, especially with regard to the age of starting treatment. It is a complex public health program that requires greater attention to fully achieve its goals and increase its effectiveness

Keywords

• Phenylketonurias. Neonatal Screening. Child Health. Metabolism
• Inborn Errors