Skip to main content
View expanded cover

Lipids in Health and Disease pp 567–588Cite as

Lipidomics in diagnosis of lipidoses

  • Chapter

Part of the Subcellular Biochemistry book series (SCBI,volume 49)

Abstract

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.

Keywords

  • Lipidomics
  • Fabry
  • Gaucher
  • Tay-Sachs
  • Lipofucinosis
  • Sjogren-Larsson syndrome

This is a preview of subscription content, access via your institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-1-4020-8831-5_22
  • Chapter length: 22 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   269.00
Price excludes VAT (USA)
  • ISBN: 978-1-4020-8831-5
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD   349.99
Price excludes VAT (USA)
Hardcover Book
USD   349.99
Price excludes VAT (USA)
Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A., Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease, American journal of human genetics 60 (1997) 1099–1106.

    PubMed  CAS  Google Scholar 

  • Aslam S.A., Sheth H.G., Ocular features of Sjogren-Larsson syndrome, Clinical & experimental ophthalmology 35 (2007) 98–99.

    CrossRef  Google Scholar 

  • Bach G., Tomczak J., Risch N., Ekstein J., Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure, American journal of medical genetics 99 (2001) 70–75.

    PubMed  CrossRef  CAS  Google Scholar 

  • Banikazemi M., Bultas J., Waldek S., Wilcox W.R., Whitley C.B., McDonald M., Finkel R., Packman S., Bichet D.G., Warnock D.G., Desnick R.J., Agalsidase-beta therapy for advanced Fabry disease: a randomized trial, Annals of internal medicine 146 (2007) 77–86.

    PubMed  Google Scholar 

  • Beutler E., Lysosomal storage diseases: natural history and ethical and economic aspects, Molecular genetics and metabolism 88 (2006) 208–215.

    PubMed  CrossRef  CAS  Google Scholar 

  • Beutler E., Kuhl W., Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes, Nature 258 (1975) 262–264.

    PubMed  CrossRef  CAS  Google Scholar 

  • Beutler E., Kuhl W., Comings D., Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease), American journal of human genetics 27 (1975) 628–638.

    PubMed  CAS  Google Scholar 

  • Bligh E.G., Dyer W.J., A Rapid Method of Total Lipid Extraction and Purification, Canadian Journal of Biochemistry and Physiology 37 (1959) 911–917.

    PubMed  CAS  Google Scholar 

  • Bodennec J., Pelled D., Riebeling C., Trajkovic S., Futerman A.H., Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide, Faseb J 16 (2002) 1814–1816.

    PubMed  CAS  Google Scholar 

  • Brady R.O., Kanfer J., Shapiro D., The Metabolism of Glucocerebrosides. I. Purification and Properties of a Glucocerebroside-Cleaving Enzyme from Spleen Tissue, The Journal of biological chemistry 240 (1965) 39–43.

    PubMed  CAS  Google Scholar 

  • Brady R.O., Kanfer J.N., Shapiro D., Metabolism of Glucocerebrosides. Ii. Evidence of an Enzymatic Deficiency in Gaucher's Disease, Biochem Biophys Res Commun 18 (1965) 221–225.

    PubMed  CrossRef  CAS  Google Scholar 

  • Chamoles N.A., Blanco M., Gaggioli D., Casentini C., Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards, Clinica chimica acta; international journal of clinical chemistry 318 (2002) 133–137.

    PubMed  CrossRef  CAS  Google Scholar 

  • Colsch B., Afonso C., Turpin J.C., Portoukalian J., Tabet J.C., Baumann N., Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects, Biochim Biophys Acta (2007) in press.

    Google Scholar 

  • Conzelmann E., Kytzia H.J., Navon R., Sandhoff K., Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level, American journal of human genetics 35 (1983) 900–913.

    PubMed  CAS  Google Scholar 

  • Cybulla M., Neumann H.P., [Fabry disease. An interdisciplinary challenge], Deutsche medizinische Wochenschrift (1946) 132 (2007) 2271–2277.

    PubMed  CrossRef  CAS  Google Scholar 

  • DeGraba T., Azhar S., Dignat-George F., Brown E., Boutiere B., Altarescu G., McCarron R., Schiffmann R., Profile of endothelial and leukocyte activation in Fabry patients, Annals of neurology 47 (2000) 229–233.

    PubMed  CrossRef  CAS  Google Scholar 

  • Eckhardt M., Hedayati K.K., Pitsch J., Lullmann-Rauch R., Beck H., Fewou S.N., Gieselmann V., Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy, Journal of Neuroscience 27 (2007) 9009–9021.

    PubMed  CrossRef  CAS  Google Scholar 

  • Eitzman D.T., Bodary P.F., Shen Y., Khairallah C.G., Wild S.R., Abe A., Shaffer-Hartman J., Shayman J.A., Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis, Journal of the American Society of Nephrology 14 (2003) 298–302.

    PubMed  CrossRef  CAS  Google Scholar 

  • Falguieres T., Mallard F., Baron C., Hanau D., Lingwood C., Goud B., Salamero J., Johannes L., Targeting of Shiga toxin B-subunit to retrograde transport route in association with detergent-resistant membranes, Molecular Biology of the Cell 12 (2001) 2453–2468.

    PubMed  CAS  Google Scholar 

  • Falguieres T., Romer W., Amessou M., Afonso C., Wolf C., Tabet J.C., Lamaze C., Johannes L., Functionally different pools of Shiga toxin receptor, globotriaosyl ceramide, in HeLa cells, FEBS Journal 273 (2006) 5205–5218.

    PubMed  CrossRef  CAS  Google Scholar 

  • Fellgiebel A., Muller M.J., Mazanek M., Baron K., Beck M., Stoeter P., White matter lesion severity in male and female patients with Fabry disease, Neurology 65 (2005) 600–602.

    PubMed  CrossRef  CAS  Google Scholar 

  • Folch J., Lees M., Stanley G.H.S., A Simple Method for the Isolation and Purification of Total Lipides from Animal Tissues, Journal of Biological Chemistry 226 (1957) 497–509.

    PubMed  CAS  Google Scholar 

  • George T., Boyd B., Price M., Lingwood C., Maloney M., MHC class II proteins contain a potential binding site for the verotoxin receptor glycolipid CD77, Cell Mol Biol (Noisy-le-grand) 47 (2001) 1179–1185.

    CAS  Google Scholar 

  • Hein L.K., Meikle P.J., Hopwood J.J., Fuller M., Secondary sphingolipid accumulation in a macrophage model of Gaucher disease, Molecular genetics and metabolism 92 (2007) 336–345.

    PubMed  CrossRef  CAS  Google Scholar 

  • Honda S., Akao E., Suzuki S., Okuda M., Kakehi K., Nakamura J., High-performance liquid chromatography of reducing carbohydrates as strongly ultraviolet-absorbing and electrochemically sensitive 1-phenyl-3-methyl-5-pyrazolone derivatives, Analytical biochemistry 180 (1989) 351–357.

    PubMed  CrossRef  CAS  Google Scholar 

  • Hsu F.F., Turk J., Studies on sulfatides by quadrupole ion-trap mass spectrometry with electrospray ionization: structural characterization and the fragmentation processes that include an unusual internal galactose residue loss and the classical charge-remote fragmentation, Journal of the American Society for Mass Spectrometry 15 (2004) 536–546.

    PubMed  CrossRef  CAS  Google Scholar 

  • Kacher Y., Golan A., Pewzner-Jung Y., Futerman A.H., Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:phosphocholine cytidylyltransferase alpha, Blood cells, molecules & diseases 39 (2007) 124–129.

    CrossRef  CAS  Google Scholar 

  • Kaneski C.R., Moore D.F., Ries M., Zirzow G.C., Schiffmann R., Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease, Neurology 67 (2006) 2045–2047.

    PubMed  CrossRef  CAS  Google Scholar 

  • Khine A.A., Lingwood C.A., Functional significance of globotriaosyl ceramide in interferon-alpha(2)/type 1 interferon receptor-mediated antiviral activity, Journal of Cellular Physiology 182 (2000) 97–108.

    PubMed  CrossRef  CAS  Google Scholar 

  • Kitagawa T., Ishige N., Suzuki K., Owada M., Ohashi T., Kobayashi M., Eto Y., Tanaka A., Mills K., Winchester B., Keutzer J., Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry, Molecular genetics and metabolism 85 (2005) 196–202.

    PubMed  CrossRef  CAS  Google Scholar 

  • Koprivica V., Stone D.L., Park J.K., Callahan M., Frisch A., Cohen I.J., Tayebi N., Sidransky E., Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease, American journal of human genetics 66 (2000) 1777–1786.

    PubMed  CrossRef  CAS  Google Scholar 

  • Lin L., Sohar I., Lackland H., Lobel P., The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH, The Journal of biological chemistry 276 (2001) 2249–2255.

    PubMed  CAS  Google Scholar 

  • Lingwood C.A., Role of verotoxin receptors in pathogenesis, Trends Microbiol 4 (1996) 147–153.

    PubMed  CrossRef  CAS  Google Scholar 

  • Lu J.Y., Verkruyse L.A., Hofmann S.L., Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase, Proceedings of the National Academy of Sciences of the United States of America 93 (1996) 10046–10050.

    PubMed  CrossRef  CAS  Google Scholar 

  • Lugowska A., Amaral O., Berger J., Berna L., Bosshard N.U., Chabas A., Fensom A., Gieselmann V., Gorovenko N.G., Lissens W., Mansson J.E., Marcao A., Michelakakis H., Bernheimer H., Ol'khovych N.V., Regis S., Sinke R., Tylki-Szymanska A., Czartoryska B., Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries, Molecular genetics and metabolism 86 (2005) 353–359.

    PubMed  CrossRef  CAS  Google Scholar 

  • Lukacs Z., Santavuori P., Keil A., Steinfeld R., Kohlschutter A., Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots, Clinical chemistry 49 (2003) 509–511.

    PubMed  CrossRef  CAS  Google Scholar 

  • Maloney M.D., Lingwood C.A., CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis, Journal of Experimental Medicine 180 (1994) 191–201.

    PubMed  CrossRef  CAS  Google Scholar 

  • Mangeney M., Lingwood C.A., Taga S., Caillou B., Tursz T., Wiels J., Apoptosis induced in Burkitt's lymphoma cells via Gb3/CD77, a glycolipid antigen, Cancer Research 53 (1993) 5314–5319.

    PubMed  CAS  Google Scholar 

  • Mills K., Johnson A., Winchester B., Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry, FEBS letters 515 (2002) 171–176.

    PubMed  CrossRef  CAS  Google Scholar 

  • Moore D.F., Herscovitch P., Schiffmann R., Selective arterial distribution of cerebral hyperperfusion in Fabry disease, Journal of Neuroimaging 11 (2001) 303–307.

    PubMed  CAS  CrossRef  Google Scholar 

  • Moore D.F., Scott L.T., Gladwin M.T., Altarescu G., Kaneski C., Suzuki K., Pease-Fye M., Ferri R., Brady R.O., Herscovitch P., Schiffmann R., Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy, Circulation 104 (2001) 1506–1512.

    PubMed  CrossRef  CAS  Google Scholar 

  • Myerowitz R., Costigan F.C., The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase, The Journal of biological chemistry 263 (1988) 18587–18589.

    PubMed  CAS  Google Scholar 

  • Myerowitz R., Lawson D., Mizukami H., Mi Y., Tifft C.J., Proia R.L., Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling, Human molecular genetics 11 (2002) 1343–1350.

    PubMed  CrossRef  CAS  Google Scholar 

  • Naiki M., Marcus D.M., Human erythrocyte P and Pk blood group antigens: identification as glycosphingolipids, Biochemical and Biophysical Research Communications 60 (1974) 1105–1111.

    PubMed  CrossRef  CAS  Google Scholar 

  • Nelson B.C., Roddy T., Araghi S., Wilkens D., Thomas J.J., Zhang K., Sung C.C., Richards S.M., Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry, Journal of chromatography 805 (2004) 127–134.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ohashi Y., Nagai Y., Fast-atom-bombardment chemistry of sulfatide (3-sulfogalactosylceramide), Carbohydrate research 221 (1991) 235–243.

    PubMed  CrossRef  CAS  Google Scholar 

  • Pigg M., Annton-Lamprecht I., Braun-Quentin C., Gustavson K.H., Wadelius C., Further evidence of genetic homogeneity in Sjogren-Larsson syndrome, Acta dermato-venereologica 79 (1999) 41–43.

    PubMed  CrossRef  CAS  Google Scholar 

  • Puri A., Hug P., Jernigan K., Rose P., Blumenthal R., Role of glycosphingolipids in HIV-1 entry: requirement of globotriosylceramide (Gb3) in CD4/CXCR4-dependent fusion, Bioscience reports 19 (1999) 317–325.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ramakrishnan H., Hedayati K.K., Lullmann-Rauch R., Wessig C., Fewou S.N., Maier H., Goebel H.H., Gieselmann V., Eckhardt M., Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy, Journal of Neuroscience 27 (2007) 9482–9490.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ramsay S.L., Meikle P.J., Hopwood J.J., Clements P.R., Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides, Analytical biochemistry 345 (2005) 30–46.

    PubMed  CrossRef  CAS  Google Scholar 

  • Rauschka H., Colsch B., Baumann N., Wevers R., Schmidbauer M., Krammer M., Turpin J.C., Lefevre M., Olivier C., Tardieu S., Krivit W., Moser H., Moser A., Gieselmann V., Zalc B., Cox T., Reuner U., Tylki-Szymanska A., Aboul-Enein F., LeGuern E., Bernheimer H., Berger J., Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype, Neurology 67 (2006) 859–863.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ries M., Clarke J.T., Whybra C., Timmons M., Robinson C., Schlaggar B.L., Pastores G., Lien Y.H., Kampmann C., Brady R.O., Beck M., Schiffmann R., Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease, Pediatrics 118 (2006) 924–932.

    PubMed  CrossRef  Google Scholar 

  • Rimoin D.L., Greenwald S., Nathan T.J., Kaback M.M., Unique considerations for genetic counseling in community-based carrier screening programs, Progress in clinical and biological research 18 (1977) 297–304.

    PubMed  CAS  Google Scholar 

  • Rizzo W.B., Craft D.A., Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts, The Journal of clinical investigation 88 (1991) 1643–1648.

    PubMed  CrossRef  CAS  Google Scholar 

  • Rizzo W.B., Craft D.A., Dammann A.L., Phillips M.W., Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle, The Journal of biological chemistry 262 (1987) 17412–17419.

    PubMed  CAS  Google Scholar 

  • Rizzo W.B., Craft D.A., Kelson T.L., Bonnefont J.P., Saudubray J.M., Schulman J.D., Black S.H., Tabsh K., Dirocco M., Gardner R.J., Prenatal diagnosis of Sjogren-Larsson syndrome using enzymatic methods, Prenatal diagnosis 14 (1994) 577–581.

    PubMed  CrossRef  CAS  Google Scholar 

  • Rizzo W.B., Dammann A.L., Craft D.A., Black S.H., Tilton A.H., Africk D., Chaves-Carballo E., Holmgren G., Jagell S., Sjogren-Larsson syndrome: inherited defect in the fatty alcohol cycle, The Journal of pediatrics 115 (1989) 228–234.

    PubMed  CrossRef  CAS  Google Scholar 

  • Roddy T.P., Nelson B.C., Sung C.C., Araghi S., Wilkens D., Zhang X.K., Thomas J.J., Richards S.M., Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy, Clinical chemistry 51 (2005) 237–240.

    PubMed  CrossRef  CAS  Google Scholar 

  • Rogers G.R., Rizzo W.B., Zlotogorski A., Hashem N., Lee M., Compton J.G., Bale S.J., Genetic homogeneity in Sjogren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins, American journal of human genetics 57 (1995) 1123–1129.

    PubMed  CAS  Google Scholar 

  • Romanes G.J., Sjogren-Larson syndrome, The British journal of ophthalmology 52 (1968) 174–177.

    PubMed  CrossRef  CAS  Google Scholar 

  • Roux C., Action teratogène du triparanol chez l'animal, Archives françaises de pédiatrie 21 (1964) 451–464.

    PubMed  CAS  Google Scholar 

  • Schiffmann R., Murray G.J., Treco D., Daniel P., Sellos-Moura M., Myers M., Quirk J.M., Zirzow G.C., Borowski M., Loveday K., Anderson T., Gillespie F., Oliver K.L., Jeffries N.O., Doo E., Liang T.J., Kreps C., Gunter K., Frei K., Crutchfield K., Selden R.F., Brady R.O., Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease, Proceedings of the National Academy of Sciences of the United States of America 97 (2000) 365–370.

    PubMed  CrossRef  CAS  Google Scholar 

  • Sevin C., Verot L., Benraiss A., Van Dam D., Bonnin D., Nagels G., Fouquet F., Gieselmann V., Vanier M.T., De Deyn P.P., Aubourg P., Cartier N., Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer, Gene therapy 14 (2007) 405–414.

    PubMed  CrossRef  CAS  Google Scholar 

  • Shen Y., Bodary P.F., Vargas F.B., Homeister J.W., Gordon D., Ostenso K.A., Shayman J.A., Eitzman D.T., Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation, Stroke 37 (2006) 1106–1108.

    PubMed  CrossRef  CAS  Google Scholar 

  • Sillence D.J., Puri V., Marks D.L., Butters T.D., Dwek R.A., Pagano R.E., Platt F.M., Glucosylceramide modulates membrane traffic along the endocytic pathway, Journal of lipid research 43 (2002) 1837–1845.

    PubMed  CrossRef  CAS  Google Scholar 

  • Smith D.C., Sillence D.J., Falguieres T., Jarvis R.M., Johannes L., Lord J.M., Platt F.M., Roberts L.M., The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect, Molecular Biology of the Cell 17 (2006) 1375–1387.

    PubMed  CrossRef  CAS  Google Scholar 

  • Smith D.W., Lemli L., Opitz J.M., A Newly Recognized Syndrome of Multiple Congenital Anomalies, The Journal of pediatrics 64 (1964) 210–217.

    PubMed  CrossRef  CAS  Google Scholar 

  • Steiner R., Koch T., Al-Uzri A., Uchida N., Tamaki S., Tsukamoto A., Guillaume D., Selden N., Molecular Genetics and Metabolism A phase I clinical study of human CNS stem cells (HUCNS-SC) in patients with neuronal ceroid lipofuscinosis, in: Elsevier (Ed.), Molecular genetics and metabolism, Elsevier, 2007, p. 17.

    Google Scholar 

  • Taga S., Carlier K., Mishal Z., Capoulade C., Mangeney M., Lecluse Y., Coulaud D., Tetaud C., Pritchard L.L., Tursz T., Wiels J., Intracellular signaling events in CD77-mediated apoptosis of Burkitt's lymphoma cells, Blood 90 (1997) 2757–2767.

    PubMed  CAS  Google Scholar 

  • Tint G.S., Cholesterol defect in Smith-Lemli-Opitz syndrome, American Journal of Medical Genetics 47 (1993) 573–574.

    PubMed  CrossRef  CAS  Google Scholar 

  • Trajkovic-Bodennec S., Bodennec J., Futerman A.H., Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes, Blood cells, molecules & diseases 33 (2004) 77–82.

    CrossRef  CAS  Google Scholar 

  • Tsui Z.C., Chen Q.R., Thomas M.J., Samuel M., Cui Z., A method for profiling gangliosides in animal tissues using electrospray ionization-tandem mass spectrometry, Analytical biochemistry 341 (2005) 251–258.

    PubMed  CrossRef  CAS  Google Scholar 

  • Tsuji D., Higashine Y., Matsuoka K., Sakuraba H., Itoh K., Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies, Clinica chimica acta; international journal of clinical chemistry 378 (2007) 38–41.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ullman M.D., McCluer R.H., Quantitative analysis of brain gangliosides by high performance liquid chromatography of their perbenzoyl derivatives, Journal of lipid research 26 (1985) 501–506.

    PubMed  CAS  Google Scholar 

  • Ullman S., Nelson L.B., Jackson L.G., Prenatal diagnostic techniques. Chorionic villus sampling, Survey of ophthalmology 30 (1985) 33–40.

    PubMed  CrossRef  CAS  Google Scholar 

  • Utsumi K., Yamamoto N., Kase R., Takata T., Okumiya T., Saito H., Suzuki T., Uyama E., Sakuraba H., High incidence of thrombosis in Fabry's disease, Internal Medicine 36 (1997) 327–329.

    PubMed  CrossRef  CAS  Google Scholar 

  • Wang W.Q., Gustafson A., Ganglioside extraction from erythrocytes: a comparison study, Acta Chemica Scandinavica 49 (1995) 929–936.

    PubMed  CrossRef  CAS  Google Scholar 

  • Whitfield P.D., Nelson P., Sharp P.C., Bindloss C.A., Dean C., Ravenscroft E.M., Fong B.A., Fietz M.J., Hopwood J.J., Meikle P.J., Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity, Molecular genetics and metabolism 75 (2002) 46–55.

    PubMed  CrossRef  CAS  Google Scholar 

  • Whitfield P.D., Sharp P.C., Johnson D.W., Nelson P., Meikle P.J., Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry, Molecular genetics and metabolism 73 (2001) 30–37.

    PubMed  CrossRef  CAS  Google Scholar 

  • Willemsen M.A., Cruysberg J.R., Rotteveel J.J., Aandekerk A.L., Van Domburg P.H., Deutman A.F., Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome, American journal of ophthalmology 130 (2000) 782–789.

    PubMed  CrossRef  CAS  Google Scholar 

  • Wisniewski K.E., Zhong N., Philippart M., Pheno/genotypic correlations of neuronal ceroid lipofuscinoses, Neurology 57 (2001) 576–581.

    PubMed  CAS  Google Scholar 

  • Young E.P., Worthington V.C., Jackson M., Winchester B.G., Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities, European Journal of Paediatric Neurology 5 Suppl A (2001) 193–196.

    PubMed  CrossRef  Google Scholar 

Download references

Acknowledgements

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

Author information

Authors and Affiliations

  1. Mass Spectrometry Unit, INSERM U538, Faculte de Medecine P. et M. Curie, University Paris-6, 27 rue de Chaligny, Paris 75012, France

    C. Wolf

Authors
  1. C. Wolf
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. P.J. Quinn
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Biochemistry Department, King’s College London, 150 Stamford Street, London SE1 9NH, UK

    Peter J. Quinn

  2. State Key Laboratory of Food Science and Technology, Jiangnan University, 1800 Lihu Avenue, Wuxi 214122, China

    Xiaoyuan Wang

Rights and permissions

Reprints and Permissions

Copyright information

© 2008 Springer Science+Business Media B.V.

About this chapter

Cite this chapter

Wolf, C., Quinn, P. (2008). Lipidomics in diagnosis of lipidoses. In: Quinn, P.J., Wang, X. (eds) Lipids in Health and Disease. Subcellular Biochemistry, vol 49. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-8831-5_22

Download citation