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

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 u...

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Bibliographic Details

Published in:	Quality in Sport
Main Authors:	Agata Konopka, Zuzanna Szczepaniak, Natalia Wdowiak, Dominika Ziółkowska, Kinga Adamska, Karina Lissak
Format:	Article
Language:	English
Published:	Nicolaus Copernicus University in Toruń 2024-08-01
Subjects:	Phenylketonuria PKU diagnosis phenylketonuria newborn screening genetic testing for PKU Quality of Life in PKU patients
Online Access:	https://apcz.umk.pl/QS/article/view/53878