Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism

Zhengzheng Pan, Haiwei Gu, Nari Talaty, Huanwen Chen, Narasimhamurthy Shanaiah, Bryan E. Hainline, R. Graham Cooks, Daniel Raftery

Research output: Contribution to journalArticle

122 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)539-549
Number of pages11
JournalAnalytical and Bioanalytical Chemistry
Issue number2
StatePublished - Jan 1 2007



  • Desorption electrospray ionization (DESI)
  • Inborn errors of metabolism
  • Mass spectrometry
  • Metabolomics
  • Nuclear magnetic resonance (NMR)
  • Principal component analysis (PCA)

ASJC Scopus subject areas

  • Analytical Chemistry
  • Clinical Biochemistry

Cite this