PDF(Pubmed)
Abstract：
The published data on the vitamin status of patients with phenylketonuria (PKU) is contradictory; therefore, this systematic review and meta-analysis evaluated the vitamin status of PKU patients. A comprehensive search of multiple databases (PubMed, Web of Sciences, Cochrane, and Scopus) was finished in March 2024. The included studies compared vitamin levels between individuals diagnosed with early-treated PKU and healthy controls while excluding pregnant and lactating women, untreated PKU or hyperphenylalaninemia cases, control groups receiving vitamin supplementation, PKU patients receiving tetrahydrobiopterin or pegvaliase, and conference abstracts. The risk of bias in the included studies was assessed by the Newcastle-Ottawa scale. The effect sizes were expressed as standardised mean differences. The calculation of effect sizes with 95% CI using fixed-effects models and random-effects models was performed. A p-value < 0.05 was considered statistically significant. The study protocol was registered in the PROSPERO database (CRD42024519589). Out of the initially identified 11,086 articles, 24 met the criteria. The total number of participants comprised 770 individuals with PKU and 2387 healthy controls. The meta-analyses of cross-sectional and case-control studies were conducted for vitamin B12, D, A, E, B6 and folate levels. PKU patients demonstrated significantly higher folate levels (random-effects model, SMD: 1.378, 95% CI: 0.436, 2.320, p = 0.004) and 1,25-dihydroxyvitamin D concentrations (random-effects model, SMD: 2.059, 95% CI: 0.250, 3.868, p = 0.026) compared to the controls. There were no significant differences in vitamin A, E, B6, B12 or 25-dihydroxyvitamin D levels. The main limitations of the evidence include a limited number of studies and their heterogeneity and variability in patients\' compliance. Our findings suggest that individuals with PKU under nutritional guidance can achieve a vitamin status comparable to that of healthy subjects. Our study provides valuable insights into the nutritional status of PKU patients, but further research is required to confirm these findings and explore additional factors influencing vitamin status in PKU.
摘要：
关于苯丙酮尿症（PKU）患者维生素状况的公开数据是矛盾的；因此，本系统综述和荟萃分析评估了PKU患者的维生素水平.对多个数据库的全面搜索(PubMed，WebofSciences,科克伦,和Scopus）于2024年3月完成。纳入的研究比较了诊断为早期治疗PKU的个体和健康对照者之间的维生素水平，同时排除了孕妇和哺乳期妇女。未经治疗的PKU或高苯丙氨酸血症病例，接受维生素补充剂的对照组，PKU患者接受四氢生物蝶呤或pegvaliase，和会议摘要。通过纽卡斯尔-渥太华量表评估纳入研究的偏倚风险。效应大小表示为标准化的平均差异。使用固定效应模型和随机效应模型以95%CI计算效应大小。P值<0.05被认为是统计学上显著的。研究方案在PROSPERO数据库(CRD42024519589)中注册。在最初确定的11,086篇文章中，24符合标准。参与者总数包括770名PKU患者和2387名健康对照。横断面和病例对照研究的荟萃分析进行了维生素B12，D，A,E,B6和叶酸水平。PKU患者显示出显著较高的叶酸水平(随机效应模型，SMD：1.378，95%CI：0.436，2.320，p=0.004）和1,25-二羟维生素D浓度（随机效应模型，与对照相比,SMD:2.059,95%CI:0.250,3.868,p=0.026)。维生素A没有显著差异,E,B6，B12或25-二羟维生素D水平。证据的主要局限性包括研究数量有限，以及患者依从性的异质性和变异性。我们的发现表明，在营养指导下患有PKU的个体可以达到与健康受试者相当的维生素状态。我们的研究为PKU患者的营养状况提供了有价值的见解，但需要进一步的研究来证实这些发现,并探讨影响PKU维生素状况的其他因素.
