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Related Experiment Video

Updated: Jun 10, 2026

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

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Published on: June 25, 2010

LC-MS/MS progress in newborn screening.

D C Lehotay¹, P Hall, J Lepage

¹Saskatchewan Disease Control Laboratory, Regina, SK, Canada. dlehotay@health.gov.sk.ca

Clinical Biochemistry

|August 17, 2010

Summary

This summary is machine-generated.

Newborn screening uses advanced LC-MS/MS technology to detect numerous inherited disorders. However, screening for untreatable lysosomal storage diseases raises ethical questions regarding available treatments.

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Area of Science:

Biochemistry
Genetics
Public Health

Background:

Newborn screening (NBS) programs identify treatable infant disorders presymptomatically.
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has expanded NBS capabilities by measuring amino acids and acylcarnitines.
LC-MS/MS serves as a second-tier test to confirm initial screening results.

Purpose of the Study:

To evaluate the expanding use of LC-MS/MS in newborn screening.
To discuss the implications of screening for untreatable disorders, specifically lysosomal storage diseases (LSDs).
To explore the clinical and ethical considerations of widespread LC-MS/MS application in NBS.

Main Methods:

Utilizing LC-MS/MS for high-throughput analysis of amino acids and acylcarnitines.
Developing and testing assays for detecting multiple inherited disorders, including LSDs, from a single sample.
Analyzing the capacity of LC-MS/MS to detect up to 45 different inherited disorders.

Main Results:

LC-MS/MS enables simultaneous detection of multiple amino acid and acylcarnitine-based disorders.
Screening assays for LSDs are being developed rapidly, often outpacing treatment availability.
The technology allows for efficient, multi-disorder screening with a single injection.

Conclusions:

LC-MS/MS significantly enhances the scope and efficiency of newborn screening.
The development of screening for untreatable LSDs challenges the core principle of NBS requiring available treatments.
Widespread implementation necessitates careful consideration of clinical, ethical, and logistical implications.