Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.

Abstract

BACKGROUND:

Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the possible use of these parameters as an auxiliary tool in the diagnosis of this disease.

METHODS:

GLA activity in DBS, plasma and leukocyte samples from Fabry disease patients and healthy subjects was compared and characterized in terms of optimal pH, Km and Vmax and heat stability.

RESULTS:

A difference was observed between the Km and Vmax of FD patients and healthy controls using DBS, plasma and leukocyte samples. In leukocytes, pre-incubation at 50°C for 60 min was effective to differentiate FD patients from healthy controls.

CONCLUSION:

These results can be used as an auxiliary method to the FD diagnosis, especially in cases of patients whose GLA activity is within normal range.

• Authors: Vanessa Vitcoski Daitx, Jamila Mezzalira, Vitória da Costa Moraes, Ana Carolina Breier, Jaqueline Cé, Janice Carneiro Coelho
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 445 Pg. 60-4 (May 20 2015) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 25804996 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier B.V. All rights reserved.

Chemical References

• alpha-Galactosidase

Topics

• Case-Control Studies
• Dried Blood Spot Testing
• Enzyme Stability
• Fabry Disease (blood, diagnosis, pathology)
• Female
• Hot Temperature
• Humans
• Kinetics
• Leukocytes, Mononuclear (enzymology, pathology)
• Male
• alpha-Galactosidase (metabolism)