Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism.
Amino acid
Butylation
Isobar
Liquid chromatography
Mass spectrometry
Multiple reaction monitoring
Newborn screening
Journal
Methods in molecular biology (Clifton, N.J.)
ISSN: 1940-6029
Titre abrégé: Methods Mol Biol
Pays: United States
ID NLM: 9214969
Informations de publication
Date de publication:
2022
2022
Historique:
entrez:
20
9
2022
pubmed:
21
9
2022
medline:
24
9
2022
Statut:
ppublish
Résumé
Analysis of clinically relevant amino acids using ion exchange chromatography coupled to photometric/fluorescent detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity. Employing methanol extraction and controlled butylation, C8 reversed-phase chromatography, and MS/MS detection, 32 amino acids are quantified in 20 min with clinically appropriate imprecision in plasma, urine, and cerebrospinal fluid (CSF). Quantitation is linear to 2500 μM, and limits of detection are at least 1.0 μM. Important isobaric amino acids are distinguished by chromatography or by unique patterns of fragmentation following collision-induced dissociation (CID). The technique employs commercially available reagents and may be expanded and customized for specific clinical or research settings.
Identifiants
pubmed: 36127578
doi: 10.1007/978-1-0716-2565-1_6
doi:
Substances chimiques
Amino Acids
0
Methanol
Y4S76JWI15
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
55-64Informations de copyright
© 2022. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.
Références
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