Abstract
This article highlights the significance of inborn errors of metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by the deficiency or absence of phenylalanine hydroxylase (PAH). This review discusses associated mutations in the PAH gene and their impact on phenylalanine metabolism. A total of 40 articles were analyzed between 2019 and 2023, covering diagnostic innovations, advancements in treatment and management strategies, and the long-term implications of PKU. This study emphasizes the importance of early diagnosis and highlights the ongoing need for advancements in screening methods and treatment approaches to optimize patient outcomes in PKU patients. This review provides valuable insights for healthcare professionals involved in the care of children with PKU and contributes to the enhancement of clinical practice in this field.