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Updated: May 22, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
Vanessa Vitcoski Daitx1, Jamila Mezzalira, Mariana Pereira de Souza Goldim
1Department of Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Objectives:
To compare alpha-galactosidase A activity in dried blood spots on filter paper, plasma, and leukocytes of Fabry disease patients and healthy controls, and to develop a miniaturization approach of the techniques to measure activity using plasma and leukocytes.
Design And Methods:
Blood was collected from healthy controls and Fabry disease patients. Two drops were spotted on filter paper. Plasma and leukocytes were separated from the remaining sample. Enzyme activity was assessed by fluorometry.
Results:
Significant positive correlation between standard and miniaturized techniques was observed. Alpha-galactosidase activity differed for male and female subjects when analyzed using filter paper and plasma. New reference and cutoff values were established based on the differences in alpha-galactosidase activity between genders. A good correlation was observed across biological materials assessed.
Conclusions:
The establishment of specific values for men and women increases reliability of commonly used techniques to screen and diagnose Fabry disease.
