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Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
Karen B Müller1, Mayra Db Rodrigues, Vanessa G Pereira
1Department of Pediatrics - Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Diagnostic Pathology
|October 6, 2010
Summary
This study establishes reference enzyme activity values for lysosomal storage diseases in Brazil using dried blood spots. These findings are crucial for accurate diagnosis and timely treatment of conditions like Pompe disease.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal storage diseases (LSD) are inherited genetic disorders.
- Enzyme deficiencies cause LSD, necessitating early diagnosis for effective treatment.
- This study focuses on Mucopolysaccharidosis type I, Fabry, Gaucher, and Pompe diseases.
Purpose of the Study:
- To determine reference interval values for specific lysosomal enzyme activities.
- To utilize dried blood spots (DBS) for enzyme analysis.
- To establish population-specific reference values for a Brazilian cohort.
Main Methods:
- Collected dried blood spot samples from healthy Brazilian volunteers.
- Measured the activity of five key lysosomal enzymes: alpha-galactosidase A, beta-glucosidase, alpha-glucosidase, alpha-iduronidase, and beta-galactosidase.
- Established reference ranges for each enzyme activity.
Main Results:
- Obtained reference activity values 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).
Conclusions:
- Established reference values for five lysosomal enzymes in the Brazilian population.
- Highlighted the need for population-specific reference values due to inter-laboratory variations.
- Emphasized the importance of localized reference ranges for accurate LSD diagnosis.
