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

Karen B Müller1, Mayra DB Rodrigues1, Vanessa G Pereira1, Ana M Martins1 and Vânia D'Almeida12*

Author affiliations

1 Department of Pediatrics - Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil

2 Department of Biosciences - Universidade Federal de São Paulo (UNIFESP), Santos, Brazil

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Citation and License

Diagnostic Pathology 2010, 5:65  doi:10.1186/1746-1596-5-65

Published: 29 September 2010

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.