Abstract
Urine metabolic profiles of patients with inborn errors of metabolism were examined with nuclear magnetic resonance (NMR) and desorption electrospray ionization mass spectrometry (DESI–MS) methods. Spectra obtained from the study of urine samples from individual patients with argininosuccinic aciduria (ASA), classic homocystinuria (HCY), classic methylmalonic acidemia (MMA), maple syrup urine disease (MSUD), phenylketonuria (PKU) and type II tyrosinemia (TYRO) were compared with six control patient urine samples using principal component analysis (PCA). Target molecule spectra were identified from the loading plots of PCA output and compared with known metabolic profiles from the literature and metabolite databases. Results obtained from the two techniques were then correlated to obtain a common list of molecules associated with the different diseases and metabolic pathways. The combined approach discussed here may prove useful in the rapid screening of biological fluids from sick patients and may help to improve the understanding of these rare diseases.
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Acknowledgements
This work is supported by NIH/NIGMS Grant # 5R01 GM58008-07, the NIH Roadmap Initiative on Metabolomics Technology, NIH/NIDDK 3 R21 DK070290-01, and Prosolia, Inc., Indianapolis, IN.
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Pan, Z., Gu, H., Talaty, N. et al. Principal component analysis of urine metabolites detected by NMR and DESI–MS in patients with inborn errors of metabolism. Anal Bioanal Chem 387, 539–549 (2007). https://doi.org/10.1007/s00216-006-0546-7
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DOI: https://doi.org/10.1007/s00216-006-0546-7