Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry

Clinica Chimica Acta; International Journal of Clinical Chemistry
Victor R De JesusW Harry Hannon

Abstract

The analysis of amino acids (AA) and acylcarnitines (AC) by tandem mass spectrometry (MS/MS) is performed in newborn screening laboratories worldwide. While butyl esterification assays are routine, it is possible to detect AAs and ACs as their native free acids (underivatized). The Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program provides dried blood spot (DBS) quality control (QC) and proficiency testing (PT) programs for numerous MS/MS analytes. We describe empirical differences between derivatization and non-derivatization techniques for selected AAs and ACs. DBS materials were prepared at levels near, above and below mean domestic laboratory cut-offs, and distributed to program participants for MS/MS analysis. Laboratories reported quantitative and qualitative results. QC DBS materials were assayed in-house following established protocols. Minor differences (<15%) between quantitative values resulting from butyl esters and free acid techniques were observed for the majority of the analytes. Mass spectrometric response from underivatized dicarboxylic acid acylcarnitines was less intense than their butyl esters. The use of underivatized techniques may also result in the inability to dif...Continue Reading

References

Dec 2, 2008·Clinica Chimica Acta; International Journal of Clinical Chemistry·Donald H ChaceW Harry Hannon
Jun 24, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Donald H ChaceW Harry Hannon

❮ Previous
Next ❯

Citations

Oct 19, 2011·Journal of Inherited Metabolic Disease·Tereza MooreTina M Cowan
Jun 4, 2013·Journal of the American Society for Mass Spectrometry·Nicholas J MartinHelen J Cooper
Apr 11, 2012·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·E Vieira NetoM G Ribeiro
Nov 19, 2010·Bioanalysis·Joanne V MeiW Harry Hannon
Aug 1, 2012·Metabolomics : Official Journal of the Metabolomic Society·Dana K ThompsonVirginia B Kraus
Jun 3, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Patrice K HeldMei W Baker
Dec 28, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Timothy H LimW Harry Hannon
Sep 25, 2014·Mass Spectrometry Reviews·Michel WagnerGérard Hopfgartner
Aug 17, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Donald H ChaceAlan R Spitzer
Jul 14, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Víctor R De JesúsW Harry Hannon
May 19, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Donald H ChaceW Harry Hannon
Oct 16, 2015·Molecular Genetics and Metabolism·Paul E MinklerCharles L Hoppel
Aug 14, 2012·Rapid Communications in Mass Spectrometry : RCM·M Maira Rebollido-FernandezJose M Fraga
Jul 30, 2015·Journal of Pharmaceutical and Biomedical Analysis·Erina TamashimaHitoshi Nohta
Dec 4, 2013·Critical Reviews in Clinical Laboratory Sciences·Chloe Miu MakChing-Wan Lam
Jun 8, 2002·Molecular Genetics and Metabolism·Linda L McCabe, Edward R B McCabe
Oct 31, 2020·International Journal of Neonatal Screening·Charles Austin PickensKonstantinos Petritis
Nov 27, 2020·International Journal of Neonatal Screening·Charles Austin PickensKonstantinos Petritis

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Piero RinaldoDietrich Matern
© 2021 Meta ULC. All rights reserved