SAICARSociedad Anonima de Informatica de la Comunidad Autonoma de la Rioja
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[4] Nonstandard abbreviations: PRPPS, phosphoribosyl pyrophosphate synthetase; HGPRT, hypoxanthine guanine phosphoribosyl transferase; PNP, purine nucleoside phosphorylase; XDH, xanthine dehydrogenase; APRT, adenine phosphoribosyl transferase; ADA, adenosine deaminase; UMPS, uridine monophosphate synthase; ASL, adenylosuccinate lyase; TP, thymidine phosphorylase; UP, [beta]-ureidopropionase; DHP, dihydropyrimidinase; DPD, dihydropyrimidine dehydrogenase; ESI MS/MS, electrospray ionization tandem mass spectrometry; and SAICAR, succinyl-5-amino-4-imidazole carboxamide riboside.
The pure compounds dissolved in deionized water were analyzed, with the exception of succinylaminoimidazole carboxamide riboside (SAICAR) and succinyladenosine (SAR), for which diagnostic metabolites are not commercially available (see Results).
In the sample from a patient suffering from adenylosuccinate lyase (EC deficiency, SAICAR and SAR were identified by expected migration behavior (species contain highly charged succinate functional group) and spectra (Fig.