Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots
| Autor: | Maria Alice Donati, Gabriela Niizawa, Mariana Blanco, Joan Keutzer, Franco Zacchello, Maurizio Scarpa, Elisabetta Pasquini, Rosella Tomanin, Anna Chiara Frigo, Nicoletta Gasparotto |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Clinical Biochemistry Lysosomal storage disorders Biochemistry Humans Dried blood chemistry.chemical_classification biology α glucosidase Biochemistry (medical) Infant Newborn Diagnostic test alpha-Glucosidases General Medicine Middle Aged beta-Galactosidase Enzyme assay Dried blood spot Lysosomal Storage Diseases surgical procedures operative Enzyme chemistry Late diagnosis biology.protein Blood Chemical Analysis |
| Popis: | 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 α-glucosidase and β-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 °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 β-galactosidase. DBS can be still reliably analyzed even if generated incidentally by two overlapped drops. |
| Databáze: | OpenAIRE |
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