Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy

Clinica Chimica Acta

Volumn 425, Issue , 2013, Pages 153-159

  Kuchař, Ladislav ^a   Asfaw, Befekadu ^a   Poupětová, Helena ^a   Honzíková, Jitka ^a   Tureček, František ^b   Ledvinová, Jana ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

DEAE cellulose membrane; Dry urinary samples; Isoforms; Screening for metachromatic leukodystrophy; Tandem mass spectrometry; Urinary sulfatide

Indexed keywords

DIETHYLAMINOETHYL CELLULOSE; PROSAPOSIN; SULFATIDE;

ACCURACY; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; ELUTION; HUMAN; ION EXCHANGE; LABORATORY DIAGNOSIS; LIMIT OF QUANTITATION; METACHROMATIC LEUKODYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOLID PHASE EXTRACTION; TANDEM MASS SPECTROMETRY; URINALYSIS;

ARYLSULFATASE A; ASA; COEFFICIENT OF VARIATION; CV; DEAE; DEAE-CELLULOSE MEMBRANE; DIETHYLAMINOETHYL; DRY URINARY SAMPLE; DRY URINARY SAMPLES; DUS; IPN; ISOFORM PROFILE NUMBER (RATIO OF THE SUM OF THE MAJOR FIVE ISOFORMS AND THE C18:0 SULFATIDE); ISOFORMS; METACHROMATIC LEUKODYSTROPHY; MLD; MS/MS; POLYTETRAFLUOROETHYLENE; PROSAPOSIN DEFICIENCY; PSAP-D; PTFE; S/N; SCREENING FOR METACHROMATIC LEUKODYSTROPHY; SELECTED REACTION MONITORING; SIGNAL TO NOISE RATIO; SRM; TANDEM MASS SPECTROMETRY; URINARY SULFATIDE;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DEAE-CELLULOSE; DESICCATION; FEMALE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MALE; MEMBRANES, ARTIFICIAL; MIDDLE AGED; REFERENCE STANDARDS; SOLID PHASE EXTRACTION; SPECIMEN HANDLING; SULFOGLYCOSPHINGOLIPIDS; TANDEM MASS SPECTROMETRY;

EID: 84882962595     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.06.027     Document Type: Article

References (47)

1. Sandhoff K., Kolter T., Harzer K. Sphingolipid activator proteins. The metabolic and molecular bases of inherited disease 2001, 3371-3388. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. von Figura K., Gieselmann V., Jaeken J. Metachromatic leukodystrophy. The metabolic and molecular bases of inherited disease 2001, 3695-3724. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
3. Batzios S.P., Zafeiriou D.I. Developing treatment options for metachromatic leukodystrophy. Mol Genet Metab 2012, 105:56-63.
4. Biffi A., Lucchini G., Rovelli A., Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 2008, 42(Suppl. 2):S2-S6.
5. Matzner U., Lullmann-Rauch R., Stroobants S., et al. Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. Mol Ther 2009, 17:600-606.
6. Sevin C., Aubourg P., Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007, 30:175-183.
7. Stroobants S., Gerlach D., Matthes F., et al. Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy. Hum Mol Genet 2011, 20:2760-2769.
8. Baum H., Dodgson K.S., Spencer B. The assay of arylsulphatases A and B in human urine. Clin Chim Acta 1959, 4:453-455.
9. Christomanou H., Sandhoff K. A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B. Clin Chim Acta 1977, 79:527-531.
10. Lee-Vaupel M., Conzelmann E. A simple chromogenic assay for arylsulfatase A. Clin Chim Acta 1987, 164:171-180.
11. Suzuki K. Enzymatic diagnosis of sphingolipidoses. Methods Enzymol 1987, 138:727-762.
12. Hohenschutz C., Eich P., Friedl W., Waheed A., Conzelmann E., Propping P. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet 1989, 82:45-48.
13. Gieselmann V., Polten A., Kreysing J., von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc Natl Acad Sci U S A 1989, 86:9436-9440.
14. Dubois G., Harzer K., Baumann N. Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am J Hum Genet 1977, 29:191-194.
15. Herz B., Bach G. Arylsulfatase A in pseudodeficiency. Hum Genet 1984, 66:147-150.
16. Chang P.L., Davidson R.G. Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy. Proc Natl Acad Sci U S A 1983, 80:7323-7327.
17. Kihara H., Ho C.K., Fluharty A.L., Tsay K.K., Hartlage P.L. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test. Pediatr Res 1980, 14:224-227.
18. Dayan A.D. Dichroism of cresyl violet-stained cerebroside sulfate ("sulfatide"). J Histochem Cytochem 1967, 15:421-422.
19. Suzuki K., Chen G. Metachromatic leucodystrophy: isolation and chemical analysis of metachromatic granules. Science 1966, 151:1231-1233.
20. Philippart M., Sarlieve L., Meurant C., Mechler L. Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy). J Lipid Res 1971, 12:434-441.
21. Berna L., Asfaw B., Conzelmann E., Cerny B., Ledvinova J. Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies. Anal Biochem 1999, 269:304-311.
22. Natowicz M.R., Prence E.M., Chaturvedi P., Newburg D.S. Urine sulfatides and the diagnosis of metachromatic leukodystrophy. Clin Chem 1996, 42:232-238.
23. Sugiyama E., Hara A., Uemura K. A quantitative analysis of serum sulfatide by matrix-assisted laser desorption ionization time-of-flight mass spectrometry with delayed ion extraction. Anal Biochem 1999, 274:90-97.
24. Tan M.A., Fuller M., Zabidi-Hussin Z.A., Hopwood J.J., Meikle P.J. Biochemical profiling to predict disease severity in metachromatic leukodystrophy. Mol Genet Metab 2010, 99:142-148.
25. 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. Mol Genet Metab 2001, 73:30-37.
26. Norris A.J., Whitelegge J.P., Yaghoubian A., et al. A novel mass spectrometric assay for the cerebroside sulfate activator protein (saposin B) and arylsulfatase A. J Lipid Res 2005, 46:2254-2264.
27. Kuchar L., Ledvinova J., Hrebicek M., et al. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Am J Med Genet A 2009, 149A:613-621.
28. Postle A.D. Phospholipid profiling. Metabolomics, metabonomics and metabolite profiling 2008, 116-133. Royal Society of Chemistry, Cambridge. W.J. Griffiths (Ed.).
29. Kuchar L., Rotkova J., Asfaw B., et al. Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry. Rapid Commun Mass Spectrom 2010, 24:2393-2399.
30. Taylor P.J. Matrix effects: the Achilles heel of quantitative high-performance liquid chromatography-electrospray-tandem mass spectrometry. Clin Biochem 2005, 38:328-334.
31. Micova K., Friedecky D., Faber E., Polynkova A., Adam T. Flow injection analysis vs. ultra high performance liquid chromatography coupled with tandem mass spectrometry for determination of imatinib in human plasma. Clin Chim Acta 2010, 411:1957-1962.
32. Rockville M.D. FDA guidance for industry: bioanalytical method validation: US Department of Health and Human Services. Food and Drug Administration 2001, Center for Drug Evaluation and Research.
33. Hulkova H., Cervenkova M., Ledvinova J., et al. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum Mol Genet 2001, 10:927-940.
34. Natomi H., Sugano K., Iwamori M., Takaku F., Nagai Y. Region-specific distribution of glycosphingolipids in the rabbit gastrointestinal tract: preferential enrichment of sulfoglycolipids in the mucosal regions exposed to acid. Biochim Biophys Acta 1988, 961:213-222.
35. Turecek F., Scott C.R., Gelb M.H. Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening. Methods Mol Biol 2007, 359:143-157.
36. Paschke E., Fauler G., Winkler H., et al. Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study. Am J Kidney Dis 2011, 57:673-681.
37. Ben-David O., Pewzner-Jung Y., Brenner O., et al. Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levels. J Biol Chem 2011, 286:30022-30033.
38. Laviad E.L., Albee L., Pankova-Kholmyansky I., et al. Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate. J Biol Chem 2008, 283:5677-5684.
39. De Livera A.M., Dias D.A., De Souza D., et al. Normalizing and integrating metabolomics data. Anal Chem 2012, 84:10768-10776.
40. Forni S., Fu X., Schiffmann R., Sweetman L. Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3). Mol Genet Metab 2009, 97:91.
41. Kuchar L., Asfaw B., Ledvinova J. Tandem mass spectrometry of sphingolipids: application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism. Tandem mass spectrometry - applications and principles 2012, 739-768. InTech, Rijeka. J.K. Prasain (Ed.).
42. Chatterjee S., Gupta P., Pyeritz R.E., Kwiterovich P.O. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 1984, 82:24-28.
43. Warnock D.G., Valbuena C., West M., Oliveira J.P. Renal manifestation of Fabry disease. Fabry Disease 2010, 211-243. Springer Science+Business Media B.V., Dordrecht. D. Elstein, G. Altarescu, M. Beck (Eds.).
44. Iwamori M., Moser H.W. Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography. Clin Chem 1975, 21:725-729.
45. Chatterjee S., Castiglione E., Kwiterovich P.O., Hoeg J.M., Brewer H.B. Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency. Clin Genet 1986, 29:360-368.
46. Nguyen G.K., Smith R. Repair renal tubular cells: a potential false-positive diagnosis in urine cytology. Diagn Cytopathol 2004, 31:342-346.
47. Levy M., Futerman A.H. Mammalian ceramide synthases. IUBMB Life 2010, 62:347-356.