R. Ceci et al. / Advances in Biological Chemistry 1 (2011) 58-64
64
developing countries. Quality control materials to be
used for every method are being prepared [23], which
will be used to the development of a quality control sys-
tem to standardize the assays around the different refer-
ence laboratories.
In conclusion, in this work we analyzed the usefulness
of DBS samples for diagnosis of 4 LSDs. DBS methods
for IDS, ASB and GLA activities shown to be reliable,
however, BGLU DBS assay would need a posterior con-
firmatory step. We recommend evaluating available me-
thods for other lysosomal diseases diagnosis in DBS, in
order to evaluate its usefulness as screening and/or con-
firmatory methods.
5. CONCLUSIONS
Leukocyte measurement is the only reliable way to di-
agnose Gaucher disease. For Hunter, Fabry and Maro-
teaux-Lamy disorders discrimination between patients
and controls seems adequate by DBS.
6. ACKNOWLEDGEMENTS
This study was supported by grants from SHIRE HGT and Agencia
Nacional de Promoción Científicay Tecnológica.
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