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Updated: Apr 19, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Published on: June 25, 2010

Newborn screening for lysosomal storage diseases.

Michael H Gelb¹, C Ronald Scott², Frantisek Turecek³

¹Department of Chemistry, Biochemistry, and gelb@chem.washington.edu.

Clinical Chemistry

|December 6, 2014

Summary

Newborn screening for lysosomal storage diseases is advancing with tandem mass spectrometry and fluorometry. Tandem mass spectrometry offers superior differentiation, reducing false positives and enabling effective early diagnosis and treatment.

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Area of Science:

Biochemistry
Genetics
Neonatal Medicine

Background:

Growing global interest in early detection of lysosomal storage diseases (LSDs) due to effective early treatments.
High accuracy is crucial in newborn screening to minimize false positives and manage follow-up evaluations.

Purpose of the Study:

To review and compare three primary screening methods for lysosomal storage diseases in newborns.
To evaluate the performance of these methods based on various study scales.

Main Methods:

Direct assay of enzymatic activities using tandem mass spectrometry or fluorometry.
Immunocapture-based measurement of lysosomal enzyme levels.
Biomarker measurement.

Main Results:

Tandem mass spectrometry and fluorometry are the most studied methods for direct enzymatic assay in dried blood spots.
Tandem mass spectrometry demonstrates better discrimination between affected and unaffected individuals compared to fluorometry.
This improved differentiation results in a more manageable number of screen-positive cases.

Conclusions:

Tandem mass spectrometry and fluorometry are leading techniques for newborn screening of LSDs.
Tandem mass spectrometry's superior ability to differentiate individuals is key to efficient screening protocols.
Effective differentiation facilitates timely confirmation and treatment initiation for affected newborns.