Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

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DOI: 10.4236/abc.2011.13008    6,041 Downloads   12,444 Views   Citations

ABSTRACT

Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS samples for diagnosis of 4 LSDs, with the availability of a large quantity of patient samples. Design and methods: Blood samples from previously diagnosed patients with Fabry, Gaucher, Hunter, and Maro-teaux-Lamy syndromes and normal control individ-uals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sensitivity and specificity. DBS assay for Gaucher disease would need a posterior confirmatory step. Conclusions: Leukocyte measu-rement is the only reliable way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimination between patients and controls seems adequate by DBS.

Cite this paper

Ceci, R. , Francesco, P. , Mucci, J. , Cancelarich, L. , Fossati, C. and Rozenfeld, P. (2011) Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders. Advances in Biological Chemistry, 1, 58-64. doi: 10.4236/abc.2011.13008.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Scriver, C.R., Beaudet, A.L., Sly, W. S. and Valle, D. (2001) Metabolic and molecular basis of inherited diseases. 8th Edition, McGraw Hill, New York.
[2] Beck, M. (2010) Therapy for lysosomal storage disorders. IUBMB Life, 62, 33-40.
[3] Wenger, D.A., Coppola, S. and Liu, S.L. (2003) Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol, 60, 322-328. doi:10.1001/archneur.60.3.322
[4] Kolodny, E.H. and Mumford, R.A. (1976) Human leu-kocyte acid hydrolases: characterization of eleven lyso-somal enzymes and study of reaction conditions for their automated analysis. Clinica Chimica Acta, 70, 247- 257. doi:10.1016/0009-8981(76)90426-5
[5] Coelho, J. and Giugliani, R. (2000) Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: Technical recommendations. Genetics and Molecular Biology, 23, 269-271. doi:10.1590/S1415-47572000000200004
[6] Chamoles, N.A., Blanco, M. and Gaggioli, D. (2001a). Fab- ry disease: Enzymatic diagnosis in dried blood spots on filter paper. Clinica Chimica Acta, 308, 195-196. doi:10.1016/S0009-8981(01)00478-8
[7] Olivova, P., van der Veen, K., Cullen, E., et al. (2009) Effect of sample collection on alpha-galactosidase a en-zyme activity measurements in dried blood spots on filter paper. Clinica Chimica Acta, 403, 159-162. doi:10.1016/j.cca.2009.02.008
[8] Chamoles, N.A., Blanco, M.B., Gaggioli, D., et al. (2001b) Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper. Clinica Chimica Acta, 47, 2098-2102.
[9] Civallero, G., Michelin, K., de Mari, J., et al. (2006) Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clinica Chimica Acta, 372, 98-102. doi:10.1016/j.cca.2006.03.029
[10] Chamoles, N.A., Blanco, M., Gaggioli, et al. (2002) Gaucher and niemann-pick diseases enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnosis in newborn-screening cards. Clinica Chimica Acta, 317, 191-197. doi:10.1016/S0009-8981(01)00798-7
[11] Voznyi, Y.V., Keulemans, J.L.M., Beyer, E.M., et al. (2001) A fluorogenic assay for the diagnosis of Hunter disease (MPS II). Journal of Inherited Metabolic Disease, 24, 675-680.
[12] Linthorst, G., Vedder, A., Aerts, J., et al. (2005) Screening for fabry disease using whole blood spots fails to identify one-third of female carriers. Clinica Chimica Acta, 353, 201-203. doi:10.1016/j.cccn.2004.10.019
[13] Lukacs, Z., Hartung, R., Beck, M., et al. (2007) Direct comparison of enzyme measurements from dried blood and leukocytes from male and female fabry disease pa-tients. Journal of Inherited Metabolic Disease, 30, 614.
[14] Lyon, M.F. (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature, 190, 372-373. doi:10.1038/190372a0
[15] Porsch, D.B., Nunes, A.C., Milani, V., et al. (2008) Fabry disease in hemodialysis patients in southern Brazil: pre-valence study and clinical report. Renal Failure, 30, 825-830. doi:10.1080/08860220802353777
[16] Gaspar, P., Herrera, J., Rodrigues, D., et al. (2010) Fre-quency of fabry disease in male and female haemodialysis patients in Spain. BMC Medical Genetics, 11, 19. doi:10.1186/1471-2350-11-19
[17] Neufeld, E.F. and Muenzer, J. (1995) The mucopolysac-charidoses. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. Eds., The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill., New York, 2465.
[18] Cosma, M.P., Pepe, S., Annunziata, I., et al. (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell, 113, 445-456. doi:10.1016/S0092-8674(03)00348-9
[19] Dierks, T., Schmidt, B., Borissenko, L.V., et al. (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell, 113, 435-444. doi:10.1016/S0092-8674(03)00347-7
[20] Poeppl, A.G., Murray, G.J. and Medin, J.A. (2005) En-hanced filter paper enzyme assay for high-throughput population screening for fabry disease. Analysis Bio-chemical, 337, 161-163. doi:10.1016/j.ab.2004.10.007
[21] Meikle, P.J., Grasby, D.J., Dean, C.J., et al. (2006) New-born screening for lysosomal storage disorders. Mole- cular Genetics and Metablism, 88, 307-314. doi:10.1016/j.ymgme.2006.02.013
[22] Li, Y., Scott, C.R., Chamoles, N.A., et al. (2004) Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clinica Chimica Acta, 50, 1785-1796. doi:10.1373/clinchem.2004.035907
[23] De Jesus, V.R., Zhang, X.K., Keutzer, J, et al. (2009) Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clinica Chimica Acta, 55, 158-164. doi:10.1373/clinchem.2008.111864

  
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