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Updated: Jul 15, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Alpha-galactosidase A in vascular disease.
Peter F Bodary1, James A Shayman, Daniel T Eitzman
1Department of Nutrition and Food Science, Wayne State University, Detroit MI 48202, USA.
Trends in Cardiovascular Medicine
|May 8, 2007
Summary
Fabry disease, caused by alpha-galactosidase A deficiency, leads to harmful glycosphingolipid buildup. This review explores how GLA deficiency may contribute to premature macrovascular events like stroke.
Area of Science:
- Biochemistry
- Vascular Biology
- Genetics
Background:
- Fabry disease results from alpha-galactosidase A (GLA) deficiency, causing glycosphingolipid accumulation.
- This accumulation leads to multiorgan pathology, including microvascular complications.
- Premature macrovascular events like stroke are also associated with GLA deficiency.
Purpose of the Study:
- To review potential mechanisms linking GLA deficiency to macrovascular disease.
- To explore the role of glycosphingolipid metabolism abnormalities in vascular complications.
- To discuss findings from a mouse model of GLA deficiency.
Main Methods:
- Literature review of studies on GLA deficiency and vascular disease.
- Analysis of data from a mouse model of alpha-galactosidase A deficiency.
- Investigation of glycosphingolipid metabolism pathways.
Main Results:
- GLA deficiency contributes to vascular pathology through glycosphingolipid accumulation.
- Mechanisms linking GLA deficiency to macrovascular events require further elucidation.
- Mouse models provide insights into GLA's role in vascular complications.
Conclusions:
- GLA deficiency is implicated in both microvascular and macrovascular disease.
- Understanding these pathways is crucial for managing Fabry disease complications.
- Further research is needed to fully clarify GLA's impact on the vasculature.
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