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Journals / International Journal of Medical Biochemistry / 2020 / Cilt: 3 - Sayı: 2

Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study

Manjunath SUPRIYA
Rita CHRISTOPHER
Chandra SADANANDAVALLI RETNASWAMI
Pages
73–81
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Further large-scale studies to determine the population prevalence and incidence of these disorders are warranted.

📌 3 Key Takeaways

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Objective & Hypothesis:Objectives: The need for early detection of lysosomal storage diseases (LSDs) for which therapeutic options are available makes them attractive candidate disorders to perform high-throughput population screening.
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Key Findings & Data:Methods: Blood spots from 12,559 putatively normal subjects were used to measure 5 lysosomal enzymes: galactocerebrosidase, acid sphingomyelinase, α-galactosidase, β-glucocerebrosidase, and α-glucosidase.
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Conclusion & Impact:Further large-scale studies to determine the population prevalence and incidence of these disorders are warranted.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Objectives: The need for early detection of lysosomal storage diseases (LSDs) for which therapeutic options are available makes them attractive candidate disorders to perform high-throughput population screening. This is a pilot study designed to simultaneously screen for Krabbe, Niemann-Pick types A/B, Fabry, Gaucher and Pompe diseases in putatively normal Indian subjects, using dried blood spots and a liquid chromatography-tandem mass spectrometry method. Methods: Blood spots from 12,559 putatively normal subjects were used to measure 5 lysosomal enzymes: galactocerebrosidase, acid sphingomyelinase, α-galactosidase, β-glucocerebrosidase, and α-glucosidase. From each blood spot, 3.2-mm punches were extracted and incubated using specific substrates and internal standards. After several liquid- and solid-phase extraction steps, the resulting solution was reconstituted and injected into a triple quadrupole, liquid chromatography-tandem mass spectrometer after recombining the reaction products into a single 96-well plate. Results: A standard calibration curve demonstrated good linearity for each enzyme. No positive case was detected among the 12,559 putatively normal subjects tested. Conclusion: Tandem mass spectrometry technology makes it possible to perform high-throughput screening to identify LSDs using blood spots. Further large-scale studies to determine the population prevalence and incidence of these disorders are warranted.

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Cite This Article

SUPRIYA, M., CHRISTOPHER, R., RETNASWAMI, C. S. (2020). Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study. International Journal of Medical Biochemistry, Cilt: 3 - Sayı: 2, 73–81. https://ajindex.com/articles/219495

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