title: Urine Pyrimidine Metabolite Determination by HPLC Tandem Mass Spectrometry.
abstract: Pyrimidine diseases result from deficiencies in pyrimidine de novo synthesis, degradation, and salvage pathways. Enzymatic deficiencies in pyrimidine catabolism lead to mitochondrial neurogastrointestinal encephalopathy (MNGIE), pyrimidinuria, dihydropyrimidinuria, ureidopropionic aciduria, and other disorders. While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and dihydropyrimidinuria may show symptoms of epilepsy, autism, mental retardation, and dysmorphic features. The application of HPLC-MS/MS facilitates rapid screening of pyrimidine metabolites. Here we describe an LCMS method for determination of uracil, thymine, thymidine, dihydrouracil, and dihydrothymine that are diagnostic biomarkers of MNGIE, pyrimidinuria, and dihydropyrimidinuria.
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*; D006801:Humans; D011743:Pyrimidines / Q000378:metabolism* / Q000652:urine*; D053719:Tandem Mass Spectrometry / Q000379:methods*; D016482:Urinalysis / Q000379:methods*
chemical_list: D011743:Pyrimidines; C030986:pyrimidine
keywords: Dihydropyrimidinuria; Dihydrouracil and dihydrothymine; Pyrimidine; Pyrimidinuria; Thymidine; Thymine; Uracil; Ureidopropionic aciduria