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

Cardiac involvement in Fabry's disease.

Kathy Nicholls1

  • 1Department of Nephrology, The Royal Melbourne Hospital, Royal Parade, Parkville, Melbourne, Vic. 3050, Australia. Kathy.Nicholls@mh.org.au

Heart, Lung & Circulation
|December 15, 2005
PubMed
Summary

Fabry disease, caused by alpha-galactosidase gene mutations, leads to glycosphingolipid buildup. This rare genetic disorder affects multiple organs and requires careful diagnosis despite potential overestimation of its frequency.

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

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.

Orphanet journal of rare diseases·2025
Same author

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

BMC nephrology·2025
Same author

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

Kidney international reports·2024
Same author

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.

Clinical journal of the American Society of Nephrology : CJASN·2024
Same author

Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.

Orphanet journal of rare diseases·2023
Same author

Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786].

Molecular genetics and metabolism reports·2021

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Fabry disease is a rare genetic disorder.
  • It stems from mutations in the X-linked alpha-galactosidase gene.
  • These mutations cause enzyme deficiency and glycosphingolipid accumulation.

Purpose of the Study:

  • To describe the genetic basis of Fabry disease.
  • To outline the pathological consequences of enzyme deficiency.
  • To discuss the clinical presentation and frequency of the disease.

Main Methods:

  • Genetic analysis of alpha-galactosidase gene mutations.
  • Biochemical assays for enzyme activity.
  • Clinical case reviews and epidemiological data analysis.

Main Results:

  • Identified various kindred-specific and spontaneous mutations in the alpha-galactosidase gene.
  • Demonstrated varying degrees of functional enzyme deficiency.
  • Observed glycosphingolipid deposition in vasculature, kidneys, heart, and reticuloendothelial tissues.
  • Suggested disease frequency may be overestimated, potentially not 1/40,000.

Conclusions:

  • Fabry disease results from diverse alpha-galactosidase gene mutations.
  • Glycosphingolipid accumulation underlies the pathology in multiple organs.
  • Accurate diagnosis and understanding of disease frequency are crucial for patient management.

Related Experiment Videos