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Biochemical defect in Fabry disease (1)

In the physiological state, inside the lysosome, alpha-galactosidase A catalyzes the hydrolysis of glycosphingolipids, with terminal alpha-galactose residues in the course of sphingolipid degradation. (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.)

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Associated Disorders

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