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Review
. 2024 Apr 29;19(1):179.
doi: 10.1186/s13023-024-03195-w.

Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses

Jing-Wen Li  1 , Shao-Jia Mao  1 , Yun-Qi Chao  1 , Chen-Xi Hu  1 , Yan-Jie Qian  1 , Yang-Li Dai  1 , Ke Huang  1 , Zheng Shen  2 , Chao-Chun Zou  3
Affiliations
Review

Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses

Jing-Wen Li et al. Orphanet J Rare Dis. .

Abstract

Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In recent years, an increasing number of therapies have increased the treatment options available to patients. Early treatment is beneficial in improving the prognosis, but children with MPSs are often delayed in their diagnosis. Therefore, there is an urgent need to develop a method for early screening and diagnosis of the disease. Tandem mass spectrometry (MS/MS) is an analytical method that can detect multiple substrates or enzymes simultaneously. GAGs are reliable markers of MPSs. MS/MS can be used to screen children at an early stage of the disease, to improve prognosis by treating them before symptoms appear, to evaluate the effectiveness of treatment, and for metabolomic analysis or to find suitable biomarkers. In the future, MS/MS could be used to further identify suitable biomarkers for MPSs for early diagnosis and to detect efficacy.

Keywords: Biomarkers; Glycosaminoglycan; Mucopolysaccharidoses; Newborn screening; Tandem mass spectrometry.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
Newborn screening process
Fig. 2
Fig. 2
Diagnostic process for suspected patients
See this image and copyright information in PMC

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