Chapter title |
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
|
---|---|
Chapter number | 24 |
Book title |
Clinical Applications of Mass Spectrometry in Biomolecular Analysis
|
Published in |
Methods in molecular biology, January 2016
|
DOI | 10.1007/978-1-4939-3182-8_24 |
Pubmed ID | |
Book ISBNs |
978-1-4939-3181-1, 978-1-4939-3182-8
|
Authors |
Sun, Qin, Qin Sun |
Abstract |
Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe intellectual disability, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency). A rapid quantitative purine assay was developed using UPLC-MS/MS to determine purine nucleoside and base concentrations in urine. Taking advantages of ultra performance liquid chromatography, we achieved satisfactory analyte separation and recovery with a polar T3 column in a short run time with no requirement of time-consuming sample preparation or derivatization. This targeted assay is intended for diagnosis and management of purine diseases, newborn screening follow-up of SCID, and evaluation of autism spectrum disorders. |
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