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• W2897441431 endingPage "681" @default.
• W2897441431 startingPage "667" @default.
• W2897441431 abstract "Introduction: Phenylketonuria (PKU) is an inborn metabolic disorder that affects phenylalanine catabolism. Early diagnosis and prompt treatment initiation are crucial for positive outcomes. More than 80 years have passed since the discovery of PKU. Now, more treatment strategies are available and the European and American PKU guidelines help to systematically assess the outcomes associated with the new or established treatments.Areas covered: A definition of PKU is presented and the evolution of the management practices since the first treated child by Dr. Bickel, in the early 1950s. The differences between early and late diagnosed patients are highlighted, mainly in terms of the ‘Two Worlds of PKU’. A section dedicated to adherence is presented, underlining that particularly in adults, this is a challenging issue. Dietary and pharmacological treatments are discussed.Expert opinion: The concept of treatment for life is more consensual. We need to optimize monitoring and how patients can manage their disease in their day to day life. A deeper understanding is needed on metabolic impact of treatment. Good examples are microbiota and glycomacropeptide. We need to continue studying the impact of adjunct treatments such as BH4, while anticipating the impact of alternative treatments such as PEG-PAL." @default.
• W2897441431 created "2018-10-26" @default.
• W2897441431 creator A5048169226 @default.
• W2897441431 creator A5069932759 @default.
• W2897441431 date "2018-10-30" @default.
• W2897441431 modified "2023-10-17" @default.
• W2897441431 title "Treatment options and dietary supplements for patients with phenylketonuria" @default.
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