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Biochemical defect in Fabry disease (2)

In Fabry dsease, deficiency of GLA activity results in defects in degradation of glycosphingolipids, causing abnormal accumulation of enzyme substrate in the lysosome. (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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  • Atypical heterozygotes
  • Autonomic neuropathy
  • Cerebral infarction
  • Glycosphingolipidosis
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Renal failure