Talebi Saeedeh, Eshraghi Peyman
Department of Pediatric Assistant Professor of Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Pediatric, Associated Professor of Mashhad University of Medical Sciences, Mashhad, Iran.
Clin Nutr ESPEN. 2024 Dec;64:307-313. doi: 10.1016/j.clnesp.2024.09.032. Epub 2024 Oct 19.
Phenylketonuria (PKU) is a genetic metabolic disease resulting from a deficiency in the enzyme phenylalanine hydroxylase. This defect prevents the conversion of phenylalanine to tyrosine, and as a result, the level of phenylalanine in the body increases abnormally. The accumulation of this amino acid may cause brain damage and grows development in these patients. The primary approach to treating the disease involves dietary management that restricts protein and phenylalanine intake, often alongside Tetrahydrobiopterin (BH4) supplementation. Medical foods specifically formulated for these patients are utilized to supply the necessary energy, protein, and tyrosine. Other treatment options, including the use of large neutral amino acids (LNAAs) and the enzyme Phenylalanine ammonia lyase (PAL), can be utilized to manage symptoms in adult patients. Advancements in gene therapy aimed at correcting defective genes in patients may help restore phenylalanine metabolism, though further research in this area is necessary. Effective personal management of phenylketonuria necessitates enhanced knowledge and collaboration among healthcare professionals to achieve optimal treatment outcomes for patients. This article emphasis the nutritional management of individuals with phenylketonuria across various stages of their lives.
苯丙酮尿症（PKU）是一种遗传性代谢疾病，由苯丙氨酸羟化酶缺乏引起。这种缺陷阻止了苯丙氨酸向酪氨酸的转化，结果，体内苯丙氨酸水平异常升高。这种氨基酸的积累可能会导致这些患者的脑损伤和生长发育问题。治疗该疾病的主要方法包括饮食管理，即限制蛋白质和苯丙氨酸的摄入，通常还需补充四氢生物蝶呤（BH4）。专门为这些患者配制的医用食品用于提供必要的能量、蛋白质和酪氨酸。其他治疗选择，包括使用大中性氨基酸（LNAAs）和苯丙氨酸解氨酶（PAL），可用于管理成年患者的症状。旨在纠正患者缺陷基因的基因治疗进展可能有助于恢复苯丙氨酸代谢，不过该领域还需要进一步研究。苯丙酮尿症的有效个人管理需要医疗保健专业人员加强知识和协作，以实现患者的最佳治疗效果。本文重点介绍了苯丙酮尿症患者在生命各个阶段的营养管理。
