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. An interdisciplinary challenge].

M Cybulla1, H P H Neumann

  • 1Abteilung IV (Nephrologie), Medizinische Klinik, Albert-Ludwigs-Universität Freiburg, Freiburg. markus.cybulla@uniklinik-freiburg.de

Deutsche Medizinische Wochenschrift (1946)
|October 18, 2007
PubMed
Summary
This summary is machine-generated.

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

Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.

Journal of neuro-oncology·2024
Same author

Morphology and etiology of pheochromocytoma.

Der Pathologe·2019
Same author

[Genetics of pheochromocytoma and the relevance in surgery].

Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen·2018
Same author

Is there any role for minimally invasive surgery in NET?

Reviews in endocrine & metabolic disorders·2017
Same author

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.

Clinical genetics·2016
Same author

MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma.

European journal of endocrinology·2015
Same journal

Deutsche medizinische Wochenschrift (1946)·2026
Same journal

["Not everything that looks like a tumor..." - Pulmonary tularemia with hilar lymphadenopathy].

Deutsche medizinische Wochenschrift (1946)·2026
Same journal

[Emergency management of sickle cell disease].

Deutsche medizinische Wochenschrift (1946)·2026
Same journal

[Hereditary dehydrated stomatocytosis (= hereditary xerocytosis) - Interesting hummingbird or clinically relevant diagnosis?]

Deutsche medizinische Wochenschrift (1946)·2026
Same journal

[Diagnosis of Congenital Hemolytic Anemias in Adults].

Deutsche medizinische Wochenschrift (1946)·2026
Same journal

[46-year-old female patient with right upper abdominal pain].

Deutsche medizinische Wochenschrift (1946)·2026
See all related articles

Fabry disease, a genetic disorder affecting the GLA gene, causes progressive globotriaosylceramide buildup. Early enzyme replacement therapy (ERT) can mitigate symptoms and improve quality of life.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Enzyme Deficiencies

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency.
  • This deficiency results in the accumulation of globotriaosylceramide (Gb3) in tissues, causing diverse clinical manifestations.
  • Early symptoms include painful neuropathy and gastrointestinal issues, progressing to severe renal, cardiac, and cerebrovascular complications.

Purpose of the Study:

  • To review the clinical presentation and management of Fabry disease.
  • To highlight the role of enzyme replacement therapy (ERT) in treating Fabry disease.
  • To emphasize the importance of early diagnosis and intervention.

Main Methods:

  • Literature review of clinical trials and observational studies on Fabry disease and ERT.

Related Experiment Videos

  • Analysis of data on the efficacy of ERT in mitigating signs, symptoms, and complications.
  • Evaluation of the impact of ERT on quality of life and mortality.

    • Main Results:

    • ERT, available since 2001, offers causal treatment for Fabry disease.
    • Published data confirm ERT's ability to alleviate symptoms, improve quality of life, and potentially reduce mortality.
    • ERT's effectiveness may be limited in severe disease stages, underscoring the need for early treatment.

    Conclusions:

    • Early diagnosis and timely initiation of ERT are crucial for managing Fabry disease effectively.
    • ERT is a valuable therapeutic option, but its impact is maximized when administered before significant organ damage occurs.
    • Continued research and monitoring are essential to optimize Fabry disease management strategies.