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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2010

Open Access 01-12-2010 | Research

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

Authors: Karen B Müller, Mayra DB Rodrigues, Vanessa G Pereira, Ana M Martins, Vânia D'Almeida

Published in: Diagnostic Pathology | Issue 1/2010

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Abstract

Background

Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population.

Results

Reference activity values were obtained from healthy volunteers samples for alpha-galactosidase A (4.57 ± 1.37 umol/L/h), beta-glucosidase (3.06 ± 0.99 umol/L/h), alpha-glucosidase (ratio: 13.19 ± 4.26; % inhibition: 70.66 ± 7.60), alpha-iduronidase (3.45 ± 1.21 umol/L/h) and beta-galactosidase (14.09 ± 4.36 umol/L/h).

Conclusion

Reference values of five lysosomal enzymes were determined for a Brazilian population sample. However, as our results differ from other laboratories, it highlights the importance of establishing specific reference values for each center.
Appendix
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Metadata
Title
Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
Authors
Karen B Müller
Mayra DB Rodrigues
Vanessa G Pereira
Ana M Martins
Vânia D'Almeida
Publication date
01-12-2010
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2010
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/1746-1596-5-65

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