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¹H-NMR Spectroscopy of Body Fluids: Inborn Errors of Purine and Pyrimidine Metabolism

¹ Institutes of Neurology and Paediatrics, University Hospital Nijmegen, 6525 GC Nijmegen, The Netherlands.

² University Marburg, Department of Neuropediatrics and Metabolic Diseases, D-35037 Marburg, Germany.

³ University Paediatric Hospital Utrecht, Laboratory of Metabolic Diseases, NL-3512 LK Utrecht, The Netherlands.

⁴ Laboratory for Genetic Metabolic Disease, Academic Medical Centre, NL-1105 A2 Amsterdam, The Netherlands.
^a Address correspondence to this author at: University Hospital Nijmegen, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands. Fax 31-24-3540297; e-mail r.wevers{at}ckslkn.azn.nl

Background: The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of ¹H-NMR as a tool in evaluation of patients with these disorders.

Methods: We performed ¹H-NMR spectroscopy on 500 and 600 MHz instruments with a standardized sample volume of 500 µL. We studied body fluids from 25 patients with nine inborn errors of purine and pyrimidine metabolism.

Results: Characteristic abnormalities could be demonstrated in the ¹H-NMR spectra of urine samples of all patients with diseases in the pyrimidine metabolism. In most urine samples from patients with defects in the purine metabolism, the ¹H-NMR spectrum pointed to the specific diagnosis in a straightforward manner. The only exception was a urine from a case of adenine phosphoribosyl transferase deficiency in which the accumulating metabolite, 2,8-dihydroxyadenine, was not seen under the operating conditions used. Similarly, uric acid was not measured. We provide the ¹H-NMR spectral characteristics of many intermediates in purine and pyrimidine metabolism that may be relevant for future studies in this field.

Conclusion: The overview of metabolism that is provided by ¹H-NMR spectroscopy makes the technique a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism.© 1999 American Association for Clinical Chemistry

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