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The RT-PCR levels of the transcripts were expressed as a percentage of the internal standard, HGPRT, defined as 100%.
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.
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.
HGPRT also is a purine salvage enzyme, converting hypoxanthine and guanine into IMP and GMP, respectively (Fig.
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- HGPRT deficiency