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The RT-PCR levels of the transcripts were expressed as a percentage of the internal standard, HGPRT, defined as 100%.
A proton nuclear magnetic resonance (1H-NMR) spectrometric method can be used to measure many compounds of purine and pyrimidine metabolism (13), but it has a major disadvantage in that it fails to detect uric acid and 2,8-dihydroxyadenine, which are very useful markers for the diagnosis of APRT deficiency, XDH deficiency, molybdenum cofactor deficiency, PRPPS super-activity, and HGPRT deficiency.
This method can be used to correctly diagnose deficiencies of APRT, ADA, PNP, UMPS, ASL, TP, DPD, DHP, UP, XDH, molybdenum cofactor, PRPPS, and HGPRT.
 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.
Lesch-Nyhan disease/hypoxanthine-guanine phosphoribosyl-transferase (HGPRT; EC 188.8.131.52) deficiency.
 Nonstandard abbreviations: [sup.1]H-NMR, proton nuclear magnetic resonance; CSF, cerebrospinal fluid; TSP, trimethylsilyl-2,2,3,3-tetradeuteropropionic acid, sodium salt; SAICA, succinylaminoimidazole carboxamide; APRT, adenine phosphoribosyltransferase; XDH, xanthine dehydrogenase; AO, aldehyde oxidase; HGPRT, hypoxanthine-guanine phosphoribosyltransferase; ADA, adenosine deaminase; and PNP, purine-nucleoside phosphorylase.
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