Journal
CLINICA CHIMICA ACTA
Volume 402, Issue 1-2, Pages 38-41Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cca.2008.12.006
Keywords
Lysosomal storage disorders; Enzyme assay; Dried blood spot; alpha-glucosidase; beta-galactosidase
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Background: Lysosomal storage disorders (LSDs) are pathologies caused by the deficit of lysosomal enzymes; late diagnosis may render therapeutic programs less effective. As early, pre-symptomatic detection could change the natural history of the disease, we are setting up rapid microassays using dried blood spots (DBS) on filter paper. Here we report alpha-glucosidase and beta-galactosidase assays. Methods: Enzymatic activities were evaluated on DBS from five different groups of subjects including healthy controls and patients affected with an LSD. A 260-day monitoring of DBS preservation at five different temperatures and a comparison of the enzymatic activities measured in DBS obtained from a single (sDBS) or a double (dDBS) blood drop were performed as well. Results: Both assays could clearly distinguish the affected patients from the other subjects analyzed. Storage of DBS at 4 degrees C and below allowed a longer preservation of the enzymatic activities. No significant differences were detected between sDBS and dDBS. Conclusions: DBS can be used for non-invasive, easy, inexpensive lysosomal enzyme assays. Reliability of assays on DBS needs to be checked using a control enzyme such as beta-galactosidase. DBS can be still reliably analyzed even if generated incidentally by two overlapped drops. (C) 2009 Elsevier B.V. All rights reserved.
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