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: data from four families].

P H Slee1, L J van Boven, D S Slee

  • 1St. Antonius Ziekenhuis, afd. Inwendige Ziekten, Postbus 2500, 3430 EM Nieuwegein. pslee@knmg.nl

Nederlands Tijdschrift Voor Geneeskunde
|January 6, 2001
PubMed
Summary

Fabry disease, a genetic disorder, is caused by alpha-galactosidase A deficiency. Identifying specific gene mutations like Gln386Stop and Met72Arg is crucial for early diagnosis and potential therapies.

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

[Clinical reasoning and decision making in practice. A depressive foreign woman with symptoms of malaise].

Nederlands tijdschrift voor geneeskunde·2004
Same author

[High dose chemotherapy and stem cell transplant in patients with operable breast cancer and a poor prognosis; not indicated for the time being].

Nederlands tijdschrift voor geneeskunde·2004
Same author

[Consultative palliative care for nausea and vomiting in the home setting].

Nederlands tijdschrift voor geneeskunde·2003
Same author

Aromatase and COX-2 expression in human breast cancers.

The Journal of steroid biochemistry and molecular biology·2002
Same author

Is platinum-based chemotherapy with paclitaxel effective in optimally debulked patients with advanced ovarian cancer?

European journal of obstetrics, gynecology, and reproductive biology·2001
Same author

[Acute hemorrhagic edema in children: excellent prognosis].

Nederlands tijdschrift voor geneeskunde·2001

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Research

Background:

  • Fabry disease is an X-linked recessive lysosomal storage disorder.
  • It results from a deficiency in the enzyme alpha-galactosidase A.
  • Early research described affected families, highlighting the need for genetic understanding.

Observation:

  • A fourth family with Fabry disease was investigated.
  • Three affected individuals in this family shared the Gln386Stop mutation in the alpha-galactosidase gene.
  • Another family exhibited the Met72Arg mutation.

Findings:

  • Identified specific mutations (Gln386Stop and Met72Arg) in the alpha-galactosidase gene in families with Fabry disease.
  • These mutations lead to a deficiency in alpha-galactosidase A activity.
  • Confirmed the genetic basis of Fabry disease in the studied families.

Implications:

  • Early and accurate diagnosis of Fabry disease is critical due to diagnostic delays.
  • Understanding specific mutations aids in genetic counseling and carrier identification.
  • Emerging therapeutic options underscore the importance of timely diagnosis for Fabry disease patients.

Related Experiment Videos