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  • Title: Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.
    Author: Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M.
    Journal: Clin Chim Acta; 2009 Apr; 402(1-2):38-41. PubMed ID: 19111682.
    Abstract:
    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.
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