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Updated: Nov 20, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Stroke and Fabry Disease: A Review of Literature

Vinayak Mishra1, Amit Banerjee1, Arohi B Gandhi1

  • 1Internal Medicine, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Cureus
|January 25, 2021
PubMed

Insights

Fabry disease, an X-linked disorder, causes cerebrovascular disease due to alpha-galactosidase A deficiency. Early screening and enzyme replacement therapy are crucial for preventing stroke in affected individuals.

Area of Science:

  • Genetics and rare diseases
  • Neurology
  • Biochemistry

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It results from alpha-galactosidase A (GLA) gene mutations, causing enzyme deficiency.
  • This leads to globotriaosylceramide accumulation and neurovascular complications, including early-onset cerebrovascular disease.

Purpose of the Study:

  • To review the pathophysiology of cerebrovascular disease in Fabry patients.
  • To discuss current knowledge on neuroradiology, treatment, and prognosis.
  • To highlight the need for further research on screening and therapy effectiveness.

Main Methods:

  • Literature review of Fabry disease and cerebrovascular complications.
  • Analysis of pathophysiology, including enzyme deficiency and substrate accumulation.
  • Evaluation of diagnostic tools like MRI and therapeutic strategies such as enzyme replacement therapy.

Main Results:

  • Cerebrovascular disease is a significant complication in Fabry patients, occurring at a young age.
  • MRI is essential for detecting characteristic white matter lesions.
  • Pathophysiology involves globotriaosylceramide accumulation in vascular cells.

Conclusions:

  • Fabry disease poses a high risk for early cerebrovascular events.
  • Further research is needed on universal screening for young stroke patients and the efficacy of enzyme replacement therapy in stroke prevention.

Keywords:
cerebrovascular diseasefabry diseasepediatric strokestroke

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