Abstract
Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance. These advancements have made NBS programs better and have improved the health outcomes of the affected newborn through improvements in accurate early detection over the past 50 years. The most current state-of-the-art technology, tandem mass spectrometry (MS/MS), has proven that it is now the choice in almost all modern NBS facilities because it is a versatile instrument that continues to grow in its application not just for amino acid and acylcarnitine detection but for other metabolites and disorders such as lysosomal storage diseases and second-tier detection of some screen-positive results. The use of MS/MS will continue to expand, even with the anticipated introduction and expansion of molecular screening methods into NBS programs. Regarding technological advancements, the future of NBS will include even newer technologies and approaches that will enhance the detection and treatment of newborns affected by PKU and other inborn errors of metabolism.
Highlights
A Better StandardMass spectrometer technology is often called the gold standard of clinical and pharmaceutical analysis
Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance
Gas chromatography (GC) methods[22,23] for Phe and other amino acid were available for a few decades, yet only recently become utilized in some laboratories but are still too labor intensive and time consuming for widespread adoption and practicality
Summary
Mass spectrometer technology is often called the gold standard of clinical and pharmaceutical analysis. The reason for this is a concept in bodily fluid analysis termed isotope dilution. This is a technique where an isotopically labeled internal standard, which is chemically identical to the target analyte but differs by mass (based on its enrichment), is added to the biofluid to be analyzed, that is, plasma, blood, or urine. Stable isotope standards are prepared in the extraction solvent where the DBS is immersed. The evolving process and design of internal standards for the analysis of NBS metabolites are little known or discussed but were important aspects of the ultimate success of MS/MS. At least 20 isotopically labeled standards are present in each MS/MS analysis of a DBS for amino acid and acylcarnitine measurements
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