• Wen Tang, Dihui Cai, Yongfei Song, Zufang Liao, and Jiangfang Lian.
• The Affiliated Lihuili Hospital, Ningbo University, Ningbo, China.
• Medicine (Baltimore). 2025 Jan 10; 104 (2): e40818e40818.

BackgroundTo determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations.MethodsWe searched PubMed, Web of Science, Cochrane Library, and EMBASE for studies of patients with genetic mutations treated with 4-PB or SPB. All data were tested using RStudio software.Results4-PB or SPB corrected the "functional" production of mutant genes (0.88 [95% confidence interval {CI}: 0.73-1.00], P = .45, I2 = 0%), restored mRNA transcription of mutant genes (0.50 [95% CI: 0.18-0.82], P = .13, I² = 47%), and improved symptoms (0.89 [95% CI: 0.78-1.00], P = .99, I² = 0%) and biochemical laboratory values (1.00 [95% CI: 0.89-1.00], P = .11, I² = 33%) in patients with inherited genetic diseases.Conclusion4-PB or SPB can be used to treat genetic diseases. However, they must be validated in high-quality randomized controlled trials before clinical use.Copyright © 2025 the Author(s). Published by Wolters Kluwer Health, Inc.

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