title: Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. qsun@bcm.edu.
authors.forename: Qin
authors.initials: Q
authors.lastname: Sun
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D011687:Purines / Q000378:metabolism* / Q000652:urine*; D013223:Statistics as Topic; D053719:Tandem Mass Spectrometry / Q000379:methods*; D016482:Urinalysis / Q000379:methods*
chemical_list: D011687:Purines; C030985:purine
keywords: Adenine; Adenosine; Guanine; Hypoxanthine; Inosine; Mass spectrometry; Purine; Succinylad-enosine; UPLC; Xanthine