Chaperone Therapy in Fabry Disease

Int J Mol Sci. 2022 Feb 8;23(3):1887. doi: 10.3390/ijms23031887.


Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.

Keywords: Fabry disease; chaperone; therapy.

Publication types

  • Review

MeSH terms

  • 1-Deoxynojirimycin / analogs & derivatives*
  • 1-Deoxynojirimycin / pharmacology
  • 1-Deoxynojirimycin / therapeutic use
  • Fabry Disease / drug therapy*
  • Fabry Disease / genetics
  • Fabry Disease / metabolism
  • Humans
  • Male
  • Mutation
  • Time-to-Treatment
  • Trihexosylceramides / metabolism
  • alpha-Galactosidase / genetics*
  • alpha-Galactosidase / metabolism


  • Trihexosylceramides
  • 1-Deoxynojirimycin
  • globotriaosylceramide
  • migalastat
  • GLA protein, human
  • alpha-Galactosidase