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

[Function and diseases of peroxisomes].

H Wehr1, J Zaremba

  • 1Zakładu Genetyki Instytutu Psychiatrii i Neurologii, Warszawie.

Neurologia I Neurochirurgia Polska
|November 1, 1991
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

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

Neurologia i neurochirurgia polska·2015
Same author

The frailty syndrome in general practitioner care: a pilot study.

Zeitschrift fur Gerontologie und Geriatrie·2010
Same author

Properties of multiple clad fibers: experiments and numerical predictions.

Applied optics·2010
Same author

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.

Journal of applied genetics·2010
Same author

Stress in optical waveguides. 2: Fibers.

Applied optics·2010
Same author

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Journal of applied genetics·2010

Peroxisomal diseases disrupt metabolism and often affect the nervous system. Detecting very long-chain fatty acids is key for diagnosing these rare genetic disorders.

Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Context:

  • Peroxisomes are vital organelles involved in various metabolic pathways.
  • Deficiencies in peroxisomal function lead to a class of rare genetic disorders.
  • These disorders frequently manifest with neurological complications.

Purpose:

  • To discuss the properties and metabolic roles of peroxisomes.
  • To outline the classification and clinical symptoms of peroxisomal diseases.
  • To highlight diagnostic approaches for these conditions.

Summary:

  • Peroxisomal disorders encompass a range of conditions arising from impaired peroxisome function.
  • Clinical presentations are diverse, with a significant predilection for nervous system involvement.

Related Experiment Videos

  • The hallmark diagnostic strategy involves the biochemical analysis of very long-chain fatty acids (VLCFAs).

    • Impact:

    • This review provides a foundational understanding of peroxisomal biology and disease.
    • It emphasizes the importance of recognizing neurological symptoms associated with peroxisomal deficiencies.
    • Accurate diagnosis through VLCFA detection enables timely management and genetic counseling.