1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

1 H NMR spectroscopy of body fluids has been used in the diagnosis of many inborn errors of metabolism (Lehnert and Hunkler 1986;Iles and Chalmers 1988).To our knowledge there is no systematic study available of body fluids from patients with inborn errors in the purine or pyrimidine metabolism.The main advantage of the technique over others that are used diagnostically in the screening for inborn errors of metabolism is the minimal sample pretreatment required for NMR spectroscopy.Fractionation, extraction or derivatization of metabolites is not required.A further advantage is the overall view of proton-containing metabolites.Quantification of metabolites is possible.An obvious disadvantage is the substantial cost of high-field NMR spectrometers that are required for this work.This paper demonstrates that NMR spectroscopy can be used in diagnosing inborn errors in purine and pyrimidine metabolism.Examples are given of NMR spectra of body fluids from patients with dihydropyrimidine dehydrogenase deficiency (McKusick 274270) and with dihydropyrimidinase deficiency (McKusick 222748).