Inborn Errors of Purine Salvage and Catabolism.
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ABSTRACT:
SUBMITTER: Camici M
PROVIDER: S-EPMC10383617 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature
Publications
Inborn Errors of Purine Salvage and Catabolism.
Camici Marcella M Garcia-Gil Mercedes M Allegrini Simone S Pesi Rossana R Bernardini Giulia G Micheli Vanna V Tozzi Maria Grazia MG
Metabolites 20230624 7
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted back to nucleotides through the salvage pathways. Inborn errors of the purine salvage pathway and catabolism have been described by several researchers and are usually referred to as rare diseases. Since purine compounds play a fundamental role, it ...[more]
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