Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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
Summary
This summary is machine-generated.

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.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Fentanyl Initiation Rate Following the Requirement for Specialist Approval.

Journal of general internal medicine·2024
Same author

Deep phenotyping of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome.

Nature communications·2024
Same author

C-C Coupling through Nitrogen Deletion: Application to Library Synthesis.

Chemistry (Weinheim an der Bergstrasse, Germany)·2023
Same author

C-C Coupling through Nitrogen Deletion: Application to Library Synthesis.

Chemistry (Weinheim an der Bergstrasse, Germany)·2022
Same author

Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2022
Same author

Severity modeling of propionic acidemia using clinical and laboratory biomarkers.

Genetics in medicine : official journal of the American College of Medical Genetics·2021
Same journal

2nd international conference on hypertension, lipids, diabetes and stroke prevention.

Timely topics in medicine. Cardiovascular diseases·2008
Same journal

Current challenges and directions in antithrombotic therapy.

Timely topics in medicine. Cardiovascular diseases·2008
Same journal

Myocardial infarction.

Timely topics in medicine. Cardiovascular diseases·2008
Same journal

Web-based medical symposia.

Timely topics in medicine. Cardiovascular diseases·2008
Same journal

The early effects of elevated glucose on endothelial function as a target in the treatment of type 2 diabetes.

Timely topics in medicine. Cardiovascular diseases·2008
Same journal

Coronary disease.

Timely topics in medicine. Cardiovascular diseases·2008
See all related articles

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.

Related Experiment Videos

  • 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.