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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Authors | Zhengzheng Pan, Haiwei Gu, Nari Talaty, Huanwen Chen, Narasimhamurthy Shanaiah, Bryan E Hainline, R Graham Cooks, Daniel Raftery |
Journal | Analytical and bioanalytical chemistry
(Anal Bioanal Chem)
Vol. 387
Issue 2
Pg. 539-49
(Jan 2007)
ISSN: 1618-2642 [Print] Germany |
PMID | 16821030
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Topics |
- Case-Control Studies
- Humans
- Magnetic Resonance Spectroscopy
(methods)
- Mass Spectrometry
(methods)
- Metabolism
- Metabolism, Inborn Errors
(metabolism, urine)
- Urine
(chemistry)
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