Chitotriosidase determination in plasma and in dried blood spots: A comparison using two different substrates in a microplate assay

Clinica Chimica Acta

Volumn 406, Issue 1-2, 2009, Pages 86-88

  Rodrigues, Mayra D B ^a   de Oliveira, Allan C ^a   Müller, Karen B ^a   Martins, Ana Maria ^a   D'Almeida, Vânia ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chitotriosidase; Dried blood spot; Gaucher disease

Indexed keywords

CHITOTRIOSIDASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD ANALYSIS; CENTRIFUGATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME SUBSTRATE; FEMALE; FLUOROMETRY; GAUCHER DISEASE; GENOTYPE; HUMAN; MALE; PLASMA; PRIORITY JOURNAL; SCHOOL CHILD; VOLUNTEER;

ADOLESCENT; ADULT; BLOOD CHEMICAL ANALYSIS; CASE-CONTROL STUDIES; CHILD; FEMALE; GAUCHER DISEASE; HEXOSAMINIDASES; HUMANS; MALE; MIDDLE AGED; TRISACCHARIDES;

EID: 67650266250     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.05.022     Document Type: Article

References (23)

1. Cox T.M., and Schofield J.P. Gaucher's disease: clinical features and natural history. Bailliere's Clin Haematol 10 (1997) 657-689
2. aed).
3. Charrow J. Ashkenazi Jewish genetic disorders. Fam Can 3 (2004) 201-206
4. Meikle P.J., Grasby D.J., Dean C.J., Lang D.L., Bockmann M., Whittle A.M., et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 88 (2006) 307-314
5. Chamoles N.A., Blanco M., Gaggioli D., and Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 317 (2002) 191-197
6. Raghavan S.S., Topol J., and Kolodny E.H. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 32 (1980) 158-173
7. Hollak C.E., van Weely S., van Oers M.H., and Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93 (1994) 1288-1292
8. Bouzas L., Carlos Guinarte J., and Carlos Tutor J. Chitotriosidase activity in plasma and mononuclear and polymorphonuclear leukocyte populations. J Clin Lab Anal 17 (2003) 271-275
9. Sobreira E., Pires R.F., Cizmarik M., and Grabowski G.A. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest-of-the-world. Mol Genet Metab 90 (2007) 81-86
10. Froissart R. Current and future biochemical markers for Gaucher disease. La Revue Med Intern / Fondee 27 Suppl 1 (2006) S22-S25
11. Aerts J.M., Hollak C.E., van Breemen M., Maas M., Groener J.E., and Boot R.G. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr Suppl 94 (2005) 43-46 [discussion 37-8]
12. Kawada M., Hachiya Y., Arihiro A., and Mizoguchi E. Role of mammalian chitinases in inflammatory conditions. Keio J Med 56 (2007) 21-27
13. Boot R.G., Verhoek M., de Fost M., Hollak C.E., Maas M., Bleijlevens B., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 1 103 (2004) 33-39
14. Boot R.G., Renkema G.H., Verhoek M., Strijland A., Bliek J., de Meulemeester T.M., et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem 273 (1998 2) 25680-25685
15. Rodrigues M.R., Sa Miranda M.C., and Amaral O. Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR. Blood Cells Mol Diseases 33 (2004) 362-364
16. Canudas J., Cenarro A., Civeira F., Garci-Otin A.L., Aristegui R., Diaz C., et al. Chitotriosidase genotype and serum activity in subjects with combined hyperlipidemia: effect of the lipid-lowering agents, atorvastatin and bezafibrate. Metab Clin Exp 50 (2001) 447-450
17. Schoonhoven A., Rudensky B., Elstein D., Zimran A., Hollak C.E., Groener J.E., et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta 381 (2007) 136-139
18. Polski J.M., Kimzey S., Percival R.W., and Grosso L.E. Rapid and effective processing of blood specimens for diagnostic PCR using filter paper and Chelex-100. Mol Pathol 51 (1998) 215-217
19. Hise A.G., Hazlett F.E., Bockarie M.J., Zimmerman P.A., Tisch D.J., and Kazura J.W. Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis. Genes Immun 4 (2003) 524-527
20. van Eijk M., van Roomen C.P., Renkema G.H., Bussink A.P., Andrews L., Blommaart E.F., et al. Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol 7 (2005) 1505-1512
21. Aguilera B., Ghauharali-van der Vlugt K., Helmond M.T., Out J.M., Donker-Koopman W.E., Groener J.E., et al. Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 17 278 (2003) 40911-40916
22. Vedder A.C., Cox-Brinkman J., Hollak C.E., Linthorst G.E., Groener J.E., Helmond M.T., et al. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. Mol Genet Metab 89 (2006) 239-244
23. Comabella M., Dominguez C., Rio J., Martin-Gallan P., Vilches A., Vilarrasa N., et al. Plasma chitotriosidase activity in multiple sclerosis. Clin Immunol (Orlando, Fla) 131 (2009) 216-222