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Enzyme enhancement therapy in Fabry disease

Enzyme enhancement therapy is based oral use of chaperones that stabilize defective alpha-galactosidase A, promote proper folding, and transport to lysosomes where accumulated substrates can be degraded. (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