Recent Advances in Phenylketonuria: A Review

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