Abstract
Considering the fact that even today in the 21st century, diet is the basis of the treatment in phenylketonuria (PKU), this review aims to provide a comprehensive analysis of existing current data from the last 15 years on dietary treatment and its impact on nutritional status and quality of life to identify gaps in knowledge and offer insights into future directions for optimizing nutritional care in PKU. Dietary treatment for PKU has evolved over the years, and in order to optimize and standardize the care, European PKU experts developed guidelines useful for both professionals and patients and their parents. The current literature underscores the essential role of diet in both managing PKU and preventing obesity, but malnutrition in these children is a complex issue that necessitates a multifaceted approach. The literature emphasizes the crucial role of dietary adherence in managing PKU. Advancements in therapy offer the potential to reduce the challenges associated with dietary phenylalanine (Phe) restrictions. Maintaining adequate levels of essential nutrients in children with PKU and monitoring trace element intake and micronutrient levels are vital for preventing deficiencies and ensuring optimal growth and development. Overall, the literature highlights the importance of personalized treatment strategies. Conclusions. Effective management of PKU necessitates strict dietary control and personalized treatment to maintain optimal blood Phe levels. Continuous monito-ring, nutritional education, and adherence to dietary recommendations are critical components in achieving the best patient outcomes. Future studies should also explore innovative therapeutic modalities, including gene therapy and novel dietary strategies that consider the gut-brain axis, to enhance the quality of life and mental health for individuals with PKU.