Lipidomics in diagnosis of lipidoses

  • C. Wolf
  • P.J. Quinn
Part of the Subcellular Biochemistry book series (SCBI, volume 49)


A review is presented of the major clinical features of a number of glycolipidoses including Fabry, Gaucher, Tay-Sachs, metachromatic leukodystrophy as well as CeroidLipofucinosis and Sjogren-Larsson syndrome. The possibilities offered by lipidomics for diagnosis and follow-up after enzyme replacement therapy are presented from a practical perspective. The contribution of HPLC coupled with tandem mass spectrometry has considerably simplified the detection and assay of abnormal metabolites. Corresponding internal standards consisting of weighed mixtures of the stable-isotope labeled metabolites required to calibrate and quantitate lipid components of these orphan diseases standards have yet to become commercially available. A lipidomics approach has been found to compare favorably with DNA-sequence analysis for the rapid diagnosis of pre-birth syndromes resulting from these multiple gene defects. The method also seems to be suitable for screening applications in terms of a high throughput combined with a low rate of false diagnoses based on the wide differences in metabolite concentrations found in affected patients as compared with normal subjects. The practical advantages of handling samples for lipidomic diagnoses as compared to enzyme assay are presented for application to diagnosis during pregnancy.


Lipidomics Fabry Gaucher Tay-Sachs Lipofucinosis Sjogren-Larsson syndrome 


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The review was supported by a grant from the Human Frontier Science Programme (RGP16/2005).


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • C. Wolf
    • 1
  • P.J. Quinn
  1. 1.Mass Spectrometry Unit, INSERM U538, Faculte de Medecine P. et M. Curie, University Paris-6France

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