Phenylketonuria: A Comprehensive Review of Pathophysiology, Diagnosis, and Management Strategies

• Main Authors: Agata Konopka (Author), Zuzanna Szczepaniak (Author), Natalia Wdowiak (Author), Dominika Ziółkowska (Author), Kinga Adamska (Author), Karina Lissak (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food. This deficiency leads to the accumulation of phenylalanine in the blood. If un...