Phenylketonuria in Brazil: a narrative review on treatment and public policies regarding patient and family demands

Abstract

Phenylketonuria (PKU) is an autosomal recessive disorder that affects phenylalanine metabolism and, if left untreated, leads to severe intellectual disability, behavioral problems, cognitive impairments, and other dysfunctions. This study aimed to assess the clinical and social aspects of PKU, focusing on the current Brazilian context, by synthesizing existing knowledge and its implications. A literature review was conducted using different academic databases, including Scopus, Web of Science, Elsevier, and Google Scholar, using context related to terms such as “phenylketonuria”, “phenylketonuria in Brazil”, “phenylalanine metabolism”, “history of phenylketonuria”, and “neonatal screening in Brazil”. Then, in order to keep our review up to date, works published in the last ten years were prioritized. Neonatal screening is widely adopted globally and began in Brazil in 1976, becoming mandatory in 2001 following the establishment of the National Neonatal Screening Program. The standard treatment begins immediately after diagnosis and consists of a protein-restricted diet supplemented with free amino acid formulas. Currently, two pharmacological therapies are available— sapropterin dihydrochloride and enzyme replacement therapy—which, although approved by Agência Nacional de Vigilância Sanitária (ANVISA), are still not offered by the Unified Health System (in Portuguese – Sistema Único de Saúde (SUS)) due to their high cost. Therefore, nutritional therapy remains the main form of treatment for PKU, despite being socially excluding and difficult to maintain over a lifetime. Public policies are urgently needed to ensure access to more effective and less restrictive treatments, aiming to improve the quality of life for individuals with PKU and minimize the consequences of the disease.