Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna Str. 27/33, 60-572 Poznań, Poland.
Department of Organization and Management in Health Care, Poznan University of Medical Sciences, Przybyszewskiego Str. 39, 60-356 Poznań, Poland.
Int J Mol Sci. 2024 May 7;25(10):5065. doi: 10.3390/ijms25105065.
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 -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, = 0.004) and 1,25-dihydroxyvitamin D concentrations (random-effects model, SMD: 2.059, 95% CI: 0.250, 3.868, = 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.
已发表的关于苯丙酮尿症（PKU）患者维生素状态的资料相互矛盾；因此，本系统评价和荟萃分析评估了 PKU 患者的维生素状态。2024 年 3 月完成了对多个数据库（PubMed、Web of Sciences、Cochrane 和 Scopus）的全面检索。纳入的研究比较了早期治疗 PKU 患者与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、未治疗的 PKU 或高苯丙氨酸血症患者、接受维生素补充的对照组、接受四氢生物蝶呤或培维利塞的 PKU 患者以及会议摘要。使用纽卡斯尔-渥太华量表评估纳入研究的偏倚风险。使用固定效应模型和随机效应模型计算具有 95%CI 的效应大小。 值<0.05 被认为具有统计学意义。研究方案已在 PROSPERO 数据库（CRD42024519589）中注册。最初确定的 11086 篇文章中，有 24 篇符合标准。参与者总数包括 770 名 PKU 患者和 2387 名健康对照者。对横断面和病例对照研究进行了荟萃分析，以评估维生素 B12、D、A、E、B6 和叶酸水平。与对照组相比，PKU 患者的叶酸水平（随机效应模型，SMD：1.378，95%CI：0.436，2.320， = 0.004）和 1,25-二羟维生素 D 浓度（随机效应模型，SMD：2.059，95%CI：0.250，3.868， = 0.026）显著更高。维生素 A、E、B6、B12 或 25-二羟维生素 D 水平无显著差异。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可变性。我们的研究结果表明，在营养指导下的 PKU 患者可以达到与健康受试者相当的维生素状态。本研究为 PKU 患者的营养状况提供了有价值的见解，但需要进一步研究来证实这些发现并探讨影响 PKU 患者维生素状态的其他因素。
