Biochemical and laboratory aspects of purine and ... - ERNDIM

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Analysis 1: Bases/nucleosides (urine/plasma): Reverse phase HPLC + photodiode array (scanning 230-310 nm) to identify bases <strong>and</strong> nucleosides by retention time <strong>and</strong> spectra. HPLC + single quad mass spec for P&Ps with poor spectra (e.g., dihydropyrimidines) GCMS is useful for bases not nucleosides. The pyridine Me-2PY is a marker for aldehyde oxidase activity (deficient in types II xanthinuria) Analysis 2: Nucleotides (intracellular only): negative charge anion exchange or ion pair HPLC (TBA) - both relatively difficult. PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com
Base/nucleoside HPLC + UV MNGIE Ura XOD- Uric No uric Thy dUrid ?pyr Xan Hypox PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com Thyd Me2PY
Page 1 and 2: Biochemical and laboratory aspects
Page 3 and 4: Purine Metabolism: Characteristics
Page 5 and 6: BASES Pyridines O C-NH2 N nicotinam
Page 7 and 8: Purine Catabolism DNA/ RNA/ ATP/ GT
Page 9 and 10: Similar to purines: Pyrimidine Meta
Page 11 and 12: Pyrimidine Catabolism DNA RNA, UDP/
Page 13 and 14: Diagnosis - Purines PDF created wit
Page 15 and 16: Establishing a range - Usually base
Page 17 and 18: ‘Lesch Nyhan Disease (LND)’: HP
Page 19 and 20: Purine nucleoside phosphorylase (PN
Page 21 and 22: ‘Xanthinuria’ Xanthine oxidase
Page 23 and 24: Myelo-adenosine deaminase deficienc
Page 25 and 26: Pyrimidine nucleotidase deficiency
Page 27 and 28: ‘Dihydropyrimidinuria’: Dihydro
Page 29 and 30: ‘Mild Orotic aciduria’ & Urea c
Page 31: Laboratory Aspects PDF created with
Page 35 and 36: Problems and Pitfalls PDF created w
Page 37 and 38: ERNDIM: Lessons from external quali
Page 39 and 40: 2. But I would like to know the acc
Page 41 and 42: An Australian and UK “straw poll
Page 43 and 44: 4. “Unrealistic” demands on sep
Page 45 and 46: Acknowledgements I thank ERNDIM and
Page 47: Merci de votre attention PDF create

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