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

Fucosidosis. II. Ultrastructure.

J Troost, W Straks, J Willemse

    Neuropadiatrie
    |May 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Fucosidosis involves ultrastructural changes in organs, including foam cells and cellular inclusions. A combined reduction in alpha-L-fucosidase and arylsulfatase A activities may cause this rare lysosomal storage disease.

    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

    An unexpected find of multifocal extranodal marginal zone lymphoma.

    Annals of hematology·2025
    Same author

    An Alternative and Conserved Cell Wall Enzyme That Can Substitute for the Lipid II Synthase MurG.

    mBio·2021
    Same author

    Automated antibody identification using the Bio-Rad IH-A<sub>b</sub>ID software.

    Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis·2018
    Same author

    Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics.

    International journal of laboratory hematology·2017
    Same author

    Correction: Detection of Alpha-Toxin and Other Virulence Factors in Biofilms of Staphylococcus aureus on Polystyrene and a Human Epidermal Model.

    PloS one·2016
    Same author

    Med Psych Units: Proceedings and abstracts of the Triptych Workshop 9 december 1999 Maastricht.

    Acta neuropsychiatrica·2016

    Area of Science:

    • Biochemistry
    • Cell Biology
    • Neuropathology

    Background:

    • Fucosidosis is a rare lysosomal storage disease characterized by the accumulation of fucose-containing glycolipids.
    • Understanding the ultrastructural pathology is crucial for diagnosing and managing fucosidosis.

    Observation:

    • Foam cells containing PAS- and Sudan-positive vacuoles were observed in various organs via light microscopy.
    • Electron microscopy revealed characteristic inclusions within hepatocytes, Schwann cells, and neurons in fucosidosis patients.
    • These inclusions featured a single membrane enclosing heterogeneous structures, including vesicular and lamellar formations.

    Findings:

    • Ultrastructural abnormalities, including cellular inclusions, were consistent across different tissues in fucosidosis cases.

    Related Experiment Videos

  • Case III presented with a distinct enzyme pattern, showing reduced alpha-L-fucosidase and arylsulfatase A activities.
  • Similar pathological findings were noted in sural nerve and liver biopsies of Case III, correlating with the observed enzyme deficiencies.

    • Implications:

    • The study suggests that a combined reduction in alpha-L-fucosidase and arylsulfatase A enzyme activities may be responsible for the observed pathology in fucosidosis.
    • These findings contribute to the understanding of the pathomechanisms underlying fucosidosis.
    • Detailed ultrastructural analysis aids in the diagnosis and potential therapeutic strategies for fucosidosis and related lysosomal storage disorders.