title: Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine.
abstract: Three urine samples from two prolidase-deficient patients were analysed using 1H NMR spectroscopy. One-dimensional 1H NMR spectra showed a characteristic pattern of overlapping resonances of the proline and hydroxyproline protons of the imidodipeptides. The model compounds Ala-Pro, Gly-Pro, Phe-Pro, Leu-Pro, Val-Pro, Gly-Hyp and Pro-Hyp were measured as well. The non-proline resonances of Val-Pro, Ala-Pro and Gly-Pro could be assigned in the urine spectra. These resonances could then be used for quantification of the corresponding imidodipeptids. The presence of Leu-Pro in the patients' urine was demonstrated by the results of COSY experiments. However, this imidodipeptide could not be quantified owing to overlap of the resonaces in the one-dimensional 1H NMR spectrum of the patients' urine. Phe-Pro, Pro-Hyp and Gly-Hyp could not be assigned in the spectrum of the patient's urine. The characteristic resonances in the urine from a prolidase-deficient patient, i.e. Ala-Pro, Val-Pro, Gly-Pro, and resonances of the (hydroxy)proline part of the imidodipeptides can be used to diagnose this disease.
authors.affiliation: Institute of Neurology, University Medical Centre Nijmegen, The Netherlands.
authors.forename: S H
authors.initials: SH
authors.lastname: Moolenaar
authors.forename: U F
authors.initials: UF
authors.lastname: Engelke
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: H
authors.initials: H
authors.lastname: Mandel
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D004150:Dipeptidases / Q000172:deficiency* / Q000235:genetics; D004151:Dipeptides / Q000737:chemistry / Q000652:urine; D006801:Humans; D006859:Hydrogen; D009682:Magnetic Resonance Spectroscopy; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000652:urine; D011392:Proline / Q000737:chemistry; D014556:Urine / Q000737:chemistry
chemical_list: D004151:Dipeptides; D006859:Hydrogen; D011392:Proline; D004150:Dipeptidases; C022449:proline dipeptidase