Nutrition in phenylketonuria

IF 2.9 Q3 NUTRITION & DIETETICS

Clinical nutrition ESPEN Pub Date : 2024-10-19 DOI:10.1016/j.clnesp.2024.09.032

Saeedeh Talebi , Peyman Eshraghi

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引用次数: 0

Abstract

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.

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苯丙酮尿症的营养问题。

苯丙酮尿症（PKU）是一种因苯丙氨酸羟化酶缺乏而导致的遗传代谢病。这种缺陷阻碍了苯丙氨酸向酪氨酸的转化，导致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。治疗这种疾病的主要方法是进行饮食管理，限制蛋白质和苯丙氨酸的摄入量，通常同时补充四氢生物蝶呤（BH4）。专为这些患者配制的医用食品可提供必要的能量、蛋白质和酪氨酸。其他治疗方法，包括使用大分子中性氨基酸（LNAAs）和苯丙氨酸氨裂解酶（PAL），可用于控制成年患者的症状。旨在纠正患者缺陷基因的基因治疗技术的进步可能有助于恢复苯丙氨酸代谢，但这一领域的研究仍需进一步深入。要对苯丙酮尿症进行有效的个人管理，就必须加强医疗保健专业人员之间的知识交流与合作，以实现患者的最佳治疗效果。这篇文章强调了苯丙酮尿症患者在人生不同阶段的营养管理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical nutrition ESPEN NUTRITION & DIETETICS-

CiteScore

4.90

自引率

3.30%

发文量

512

期刊介绍： Clinical Nutrition ESPEN is an electronic-only journal and is an official publication of the European Society for Clinical Nutrition and Metabolism (ESPEN). Nutrition and nutritional care have gained wide clinical and scientific interest during the past decades. The increasing knowledge of metabolic disturbances and nutritional assessment in chronic and acute diseases has stimulated rapid advances in design, development and clinical application of nutritional support. The aims of ESPEN are to encourage the rapid diffusion of knowledge and its application in the field of clinical nutrition and metabolism. Published bimonthly, Clinical Nutrition ESPEN focuses on publishing articles on the relationship between nutrition and disease in the setting of basic science and clinical practice. Clinical Nutrition ESPEN is available to all members of ESPEN and to all subscribers of Clinical Nutrition.