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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


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1. Dobyns WB. Acta Paediatr 2006;95(Suppl):11–15; 2. NIH US National Library of Medicine 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
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