CHALLENGES AND ADVANCES IN THE DIAGNOSIS AND TREATMENT OF PHENYLKOTUNURIA (PKU)

Abstract

Introduction: Phenylketonuria (PKU) is a hereditary metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), resulting in the accumulation of phenylalanine and its toxic metabolites in the body (Stone, 2021). This accumulation leads to significant neurological and cognitive complications, affecting patients' quality of life (Camilliani, 2019). Early diagnosis is essential and is carried out through the heel prick test, allowing the immediate implementation of dietary therapy, which consists of restricting phenylalanine in the diet and replacing it with alternative protein sources (Camilliani, 2019). Lack of adequate treatment can result in irreversible neurological damage, including mental retardation and behavioral disorders (Rocha, 2023). This work seeks to identify strategies to improve the detection and treatment of PKU, observing neurotoxicity factors (Lemos, 2021) and providing specific nutritional guidance for patients with the disease (CodAS, 2023). The goal is to promote healthy neurological development and improve the quality of life of patients with PKU, through an integrated approach that considers both the clinical and psychosocial aspects of the condition (Van Spronsen, 2021). Objective: The objective of the present study is to describe the disease of phenylketonuria in a way that expresses the importance of early diagnosis and treatment for patients. Methodology: This is a descriptive and informative literature review, the information provided is all taken from scientific articles published more recently, bringing updated and well-evidenced content. Expected results: It is expected that the research, in addition to academic and scientific enrichment regarding the topic covered, will provide relevant information to the population about the importance of knowing the disease phenylketonuria, its diagnosis, and treatment.