Department of Nutritional Sciences, King's College London, London, United Kingdom; Department of Nutrition and Dietetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; Adult Inherited Metabolic Diseases, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Adult Inherited Metabolic Diseases, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Clin Nutr. 2022 Apr;41(4):894-922. doi: 10.1016/j.clnu.2022.02.010. Epub 2022 Feb 18.
BACKGROUND & AIMS: The physical and functional outcomes of lifelong treatment with a phenylalanine restricted diet for the management of Phenylketonuria (PKU) remain unknown. Given that the mainstay of dietary management consists of modifying the sources of ingested protein, various aspects of body protein status could be compromised.
To examine the existing evidence regarding the protein status of people with PKU and identify nutritional and lifestyle variables that influence protein status.
Studies reporting anthropometric, biochemical and/or functional measurements of body protein status in people with PKU were eligible.
MEDLINE (Ovid), Embase (Ovid), CENTRAL, Web of Science and Scopus, and conference abstracts.
Seventy studies were included in the review. The majority of studies assessing protein status based on anthropometric measurements observed no differences between people with PKU and controls, although deficits in muscle mass were reported within PKU cohorts. Findings for biochemical assessment of protein status were mixed and limited studies assessed protein status using functional measures. Factors such as participant age, sex, metabolic control, protein source, type of protein substitute, and pharmacological treatments were found to modulate protein status of people with PKU.
Findings were inconclusive regarding body protein status in people with PKU. The relationship between diet and protein status outcomes remains unclear and further research is warranted to determine the impact of dietary regimens on physical and functional outcomes, and to understand the best clinical assessments to reliably monitor the protein status in people with PKU.
目前尚不清楚终身接受低苯丙氨酸饮食治疗对苯丙酮尿症（PKU）的身体和功能结果的影响。鉴于饮食管理的主要方法是改变摄入蛋白质的来源，因此身体蛋白质状况的各个方面都可能受到影响。
检查 PKU 患者的蛋白质状况的现有证据，并确定影响蛋白质状况的营养和生活方式变量。
报告 PKU 患者身体蛋白质状况的人体测量学、生化和/或功能测量的研究符合入选标准。
MEDLINE（Ovid）、Embase（Ovid）、CENTRAL、Web of Science 和 Scopus 以及会议摘要。
共纳入 70 项研究。大多数评估基于人体测量学测量的蛋白质状况的研究发现，PKU 患者与对照组之间没有差异，尽管在 PKU 队列中报告了肌肉质量不足。生化评估蛋白质状况的结果不一，并且有限的研究使用功能测量评估蛋白质状况。发现一些因素，如参与者的年龄、性别、代谢控制、蛋白质来源、蛋白质替代物的类型以及药物治疗，可调节 PKU 患者的蛋白质状况。
关于 PKU 患者的身体蛋白质状况的结论尚无定论。饮食与蛋白质状况结果之间的关系仍不清楚，需要进一步研究以确定饮食方案对身体和功能结果的影响，并了解可靠监测 PKU 患者蛋白质状况的最佳临床评估方法。
