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Prolidase deficiency diagnosed by 1 H NMR spectroscopy of urine
Author(s) -
Moolenaar S. H.,
Engelke U. F. H.,
Abeling N. G. G. M.,
Mandel H.,
Duran M.,
Wevers R. A.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1013940207973
Subject(s) - urine , hydroxyproline , chemistry , proline , nuclear magnetic resonance spectroscopy , spectroscopy , nuclear magnetic resonance , crystallography , amino acid , stereochemistry , biochemistry , physics , quantum mechanics
Three urine samples from two prolidase‐deficient patients were analysed using 1 H NMR spectroscopy. One‐dimensional 1 H 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 1 H 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.