For U.S. Healthcare Professionals Only

Visit Sanofi U.S.:

Pathophysiology

 

fabry pathophysiology

 

Signs and symptoms of Fabry disease are multisystemic and increase in number and severity over time. Lack of sufficient α-galactosidase A activity leads to progressive accumulation of the glycosphingolipids globotriaosylceramide (denoted GL3 or Gb3) and globotriaosylsphingosine (Lyso-GL3 or Lyso-Gb3) within lysosomes in a variety of cell types, including vascular endothelium, podocytes, arterial smooth muscle cells, and cardiomyocytes.11,12

 

fabry symptoms

Source: Genzyme, on file

 

To read more about Fabry disease pathophysiology, click here

 

1. Dobyns WB. Acta Paediatr 2006;95(Suppl):11–15; 2. NIH US National Library of Medicine https://ghr.nlm.nih.gov/gene/GLA#location. Accessed Mar 2018; 3. Weidemann F, et al. Ann Rev Med 2011;62:59–67; 4. Desnick RJ, et al. Ann Intern Med 2003;138:338–346; 5. Niemann M, et al. JACC Cardiovasc Imaging 2011;4:592–601; 6. Veloso VSP, et al. Nephron 2018;138:147–156; 7. Ortiz A, et al. Mol Genet Metab 2018;123:416–427; 8. MacDermot KD, et al. J Med Genet 2001;38:750–760; 9. MacDermot KD, et al. J Med Genet 2001;38:769–775; 10. Park JY, et al. Exp Mol Med 2009;41:1–7; 11. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30; 12. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-35

 

 

 

 

 

 

Last Updated: Dec 21, 2019
What's New

What's New

New to molecular testing?
This 4 minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time, and offers tips along the way.

Contact

Contact

Contact the Rare Diseases Medical Affairs team

Event Calendar

Event Calendar

Find Upcoming Events and Presentations on Our Event Calendar