| Literature DB >> 26602135 |
Qin Sun1.
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.Entities:
Keywords: Dihydropyrimidinuria; Dihydrouracil and dihydrothymine; Pyrimidine; Pyrimidinuria; Thymidine; Thymine; Uracil; Ureidopropionic aciduria
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Year: 2016 PMID： 26602135 DOI： 10.1007/978-1-4939-3182-8_25
Source DB: PubMed Journal: Methods Mol Biol ISSN： 1064-3745