Open Access

Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis

  • Authors:
    • Zhirong Shang
    • Pan Xie
    • Ke Pan
    • Jialin Liu
    • Wei Xu
    • Yue Hu
    • Li Tang
    • Qinghua Leng
    • Shuyu Liu
    • Chengchuan He
  • View Affiliations

  • Published online on: May 10, 2024     https://doi.org/10.3892/etm.2024.12566
  • Article Number: 278
  • Copyright: © Shang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study aimed to conduct a comprehensive meta‑analysis to assess the diagnostic value of fluorometric assays and tandem mass spectrometry (MS/MS) for hyperphenylalaninemia (HPA) and its subtypes. The PubMed, Embase and Cochrane Library databases were searched from inception to October 2023. The present study included studies that reported the newborn screening and genetic features of patients with HPA and excluded duplicate publications, studies without full text, studies with incomplete information, studies from which it was not possible to extract data, animal experiments, reviews and systematic reviews. STATA 15.1 was used to analyze the data. The pooled results revealed that 0.04% [95% confidence interval (CI): 0.019‑0.069] of neonatal HPA fluorometric assays and MS/MS. The positive predictive value (PPV) of neonatal HPA screening using fluorometric assays and tandem mass spectrometry was 31.7% (95% CI: 19.6‑45.2). Notably, the PPV of neonatal HPA screening using fluorometric assays was 8.3% (95% CI: 7.1‑9.6), while the PPV of neonatal HPA screening using tandem mass spectrometry was 31.8% (95% CI: 16.4‑49.4). Additionally, the pooled results showed that the incidence of tetrahydrobiopterin deficiency (BH4D) in HPA patients was 12.43% (95% CI: 3.28‑25.75) and the incidence of phenylalanine hydroxylase deficiency (PAHD) in HPA patients was 88.65% (95% CI: 78.84‑95.86). Newborn screening is an effective method for the early detection of HPA and MS/MS has a greater PPA than fluorometric assays for diagnosing HPA. In addition, in the screening of HPA, the proportion of HPA patients with PAHD was significantly higher than that of patients with BH4D.
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July-2024
Volume 28 Issue 1

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Spandidos Publications style
Shang Z, Xie P, Pan K, Liu J, Xu W, Hu Y, Tang L, Leng Q, Liu S, He C, He C, et al: Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis. Exp Ther Med 28: 278, 2024.
APA
Shang, Z., Xie, P., Pan, K., Liu, J., Xu, W., Hu, Y. ... He, C. (2024). Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis. Experimental and Therapeutic Medicine, 28, 278. https://doi.org/10.3892/etm.2024.12566
MLA
Shang, Z., Xie, P., Pan, K., Liu, J., Xu, W., Hu, Y., Tang, L., Leng, Q., Liu, S., He, C."Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis". Experimental and Therapeutic Medicine 28.1 (2024): 278.
Chicago
Shang, Z., Xie, P., Pan, K., Liu, J., Xu, W., Hu, Y., Tang, L., Leng, Q., Liu, S., He, C."Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis". Experimental and Therapeutic Medicine 28, no. 1 (2024): 278. https://doi.org/10.3892/etm.2024.12566