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 Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The Artificial Neural Network as a Diagnostic Tool of the Risk of <i>Clostridioides difficile</i> Infection among Patients with Chronic Kidney Disease.

Journal of clinical medicine·2023
Same author

Clinical Determinants Predicting <i>Clostridioides difficile</i> Infection among Patients with Chronic Kidney Disease.

Antibiotics (Basel, Switzerland)·2022
Same author

Celiac disease: uncommon, oligosymptomatic course of illness, with profound hypoalbuminemia in an adult patient.

Archive of clinical cases·2021
Same author

[i]Clostridioides difficile[/i] infection in patients with end stage renal disease. Is it preventable?

Przeglad epidemiologiczny·2020
Same author

Glomerular podocytes in diabetic renal disease.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University·2019
Same author

Risk factors of the Clostridium difficile infection in patients with chronic kidney disease.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University·2018

Related Experiment Video

Updated: Jul 19, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

[Fabry disease].

Ewa Jakubowska1, Monika Ryba, Zbigniew Hruby

  • 1Oddział Nefrologiczny z Pododdziałem Diabetologicznym i Transplantacyjnym, Wrocław.

Przeglad Lekarski
|November 4, 2006
PubMed
Summary

Fabry disease is a rare genetic condition caused by a defect in the enzyme alpha-galactosidase. Enzyme replacement therapy can help manage symptoms and prevent complications.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Context:

  • Fabry disease is a rare genetic disorder resulting from a deficiency of the enzyme alpha-galactosidase.
  • This deficiency leads to the accumulation of glycosphingolipids within lysosomes across various tissues and organs.
  • Clinical manifestations affect the heart, skin, kidneys, and nervous system.

Purpose:

  • To explain the underlying mechanism of Fabry disease.
  • To outline the clinical manifestations and affected organ systems.
  • To discuss the therapeutic potential of enzyme replacement therapy.

Summary:

  • Fabry disease stems from a defect in alpha-galactosidase, causing harmful glycosphingolipid buildup.
  • The condition presents with multi-systemic symptoms impacting cardiac, cutaneous, renal, and neurological functions.

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Related Experiment Videos

Last Updated: Jul 19, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

  • Substitution therapy with galactosidase A offers a means to influence the disease's progression, halting advancement and averting severe complications.

    • Impact:

    • Provides a foundational understanding of Fabry disease pathophysiology.
    • Highlights the critical role of enzyme replacement therapy in managing this rare genetic disorder.
    • Emphasizes the potential for improved patient outcomes through timely therapeutic intervention.