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TL;DR
It highlights the importance of early diagnosis via neonatal screening and management primarily through a low-phenylalanine diet to optimize patient outcomes.
Cureus · 1 author, 1 centre
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It highlights the importance of early diagnosis via neonatal screening and management primarily through a low-phenylalanine diet to optimize patient outcomes.
The review synthesizes literature on PKU, an inborn error of metabolism caused by phenylalanine hydroxylase deficiency. It covers the genetic basis (PAH gene mutations), epidemiology, and the pathophysiology of phenylalanine accumulation leading to neurological and other systemic effects. Central to the review are diagnostic innovations, such as neonatal screening programs, and management strategies, emphasizing a lifelong, personalized low-phenylalanine diet with specialized formulas. The review also discusses the need for multidisciplinary care, family education, financial support, and ongoing research into novel therapies. The implications underscore the critical need for early intervention and continuous care to improve clinical practice and patient quality of life.