H-1-NMR spectroscopy of body fluids: Inborn errors of purine and pyrimidine metabolism

Background: The diagnosis of inborn errors of purine and pyrimidine metabol ism is often difficult. We examined the potential of H-1-NMR as a tool in e valuation of patients with these disorders. Methods: We performed H-1-NMR spectroscopy on 500 and 600 MHz instruments w ith a standardized sample volume of 500 mu L. We studied body fluids from 2 5 patients with nine inborn errors of purine and pyrimidine metabolism. Results: Characteristic abnormalities could be demonstrated in the H-1-NMR spectra of urine samples of all patients with diseases in the pyrimidine me tabolism. In most urine samples from patients with defects in the purine me tabolism, the H-1-NMR spectrum pointed to the specific diagnosis in a strai ghtforward manner. The only exception was a urine from a case of adenine ph osphoribosyl transferase deficiency in which the accumulating metabolite, 2 ,8-dihydroxyadenine, was not seen under the operating conditions used. Simi larly, uric acid was not measured. We provide the H-1-NMR spectral characte ristics 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 H-1-NMR spectros copy makes the technique a valuable screening tool in the detection of inbo rn errors of purine and pyrimidine metabolism. (C) 1999 American Associatio n for Clinical Chemistry.