Abnormal compounds present in urine 1D 1H-NMR spectra from the patients.

The metabolites were identified by comparison of the abnormal resonances to a database of NMR spectra of model compounds [5]. In cases where the overlap of resonances in the 1D spectrum was quite severe, 2D COSY NMR experiments were used to provide additional information and confirm that the metabolite identification based on the 1D spectrum was correct.*Spectrum not completed interpreted; s = singlet; d = doublet; t = triplet; q = quartet; m = multiplet; v = various multipets.3MCC = 3-Methylcrotonyl CoA carboxylase.