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Accumulation of Gb3 in tissues in Fabry disease

The accumulation of Gb3 in tissues is a major contributor to the progression of Fabry disease. However, with intravenous infusion of recombinant lysosomal enzymes, this accumulation can be partially prevented, slowing down the disease. (Source: Amodio F, Caiazza M, Monda E, et al. An overview of molecular mechanisms in Fabry disease. Biomolecules 2022;12[10]:1460. Creative Commons Attribution [CC BY] license, creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • Atypical heterozygotes
  • Autonomic neuropathy
  • Cerebral infarction
  • Glycosphingolipidosis
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Renal failure