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Updated: Jul 19, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Fabry disease

Mark Levin1

  • 1Department of Hematology and Oncology, University Hospital of New Jersey Medical School, Newark, New Jersey, USA.

Timely Topics in Medicine. Cardiovascular Diseases
|October 27, 2006
PubMed

Insights

Enzyme replacement therapy using enzyme infusion effectively manages and prevents the diverse health issues associated with Fabry disease, an inherited enzyme deficiency. This treatment is crucial for controlling neurological, cardiac, and renal complications.

Area of Science:

  • Genetics and Genetic Diseases
  • Enzyme Replacement Therapy
  • Rare Diseases

Background:

  • Fabry disease is an inherited lysosomal storage disorder caused by deficient alpha-galactosidase A activity.
  • This deficiency leads to the accumulation of globotriaosylceramide, causing multi-systemic manifestations.
  • Phenotypes range from classic to later-onset cardiac or renal variants, often presenting with subtle or delayed diagnoses.

Purpose of the Study:

  • To review the efficacy of enzyme infusion therapy in managing Fabry disease.
  • To highlight the potential of enzyme replacement therapy in preventing disease progression.
  • To underscore the importance of early diagnosis and intervention for Fabry disease.

Main Methods:

  • Systematic review of preclinical and clinical studies on enzyme infusion for Fabry disease.
  • Analysis of data on the control and prevention of Fabry disease manifestations.
  • Evaluation of treatment outcomes across different disease phenotypes.

Main Results:

  • Enzyme infusion therapy demonstrates significant effectiveness in controlling disease progression.
  • Studies confirm the ability of enzyme replacement to prevent severe organ damage.
  • Treatment benefits are observed in managing neurological, cardiac, and renal complications.

Conclusions:

  • Enzyme infusion is a well-established and effective treatment for Fabry disease.
  • Early and consistent enzyme replacement therapy is key to improving patient outcomes.
  • This therapeutic approach offers a viable strategy for managing a complex genetic disorder.

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