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

1.0K
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,...
1.0K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
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...
1.0K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

620
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...
620
Sex-linked Disorders01:43

Sex-linked Disorders

111.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.1K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.7K
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,...
4.7K
Amyloid Fibrils03:03

Amyloid Fibrils

12.9K
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,...
12.9K

You might also read

Related Articles

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

Sort by
Same author

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Molecular genetics and metabolism·2026
Same author

<i>PTPN1</i>-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

medRxiv : the preprint server for health sciences·2026
Same author

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.

Nature communications·2026
Same author

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Journal of inherited metabolic disease·2025
Same author

Expanded View of the Pathophysiology of Fabry Disease.

Nephron·2025
Same author

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.

Journal of inherited metabolic disease·2025
Same journal

Preface.

Handbook of clinical neurology·2026
Same journal

Foreword.

Handbook of clinical neurology·2026
Same journal

Fundus autofluorescence imaging.

Handbook of clinical neurology·2026
Same journal

The electroretinogram as a means to study the physiology of the retina.

Handbook of clinical neurology·2026
Same journal

Adaptive optics scanning light ophthalmoscopy.

Handbook of clinical neurology·2026
Same journal

Modeling the human retina in a dish: Advances and future directions.

Handbook of clinical neurology·2026
See all related articles

Related Experiment Video

Updated: Mar 30, 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

8.7K

Fabry disease.

Raphael Schiffmann1

  • 1Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.

Handbook of Clinical Neurology
|November 14, 2015
PubMed
Summary
This summary is machine-generated.

Fabry disease, caused by GLA gene mutations, leads to systemic complications like stroke and kidney disease. Early diagnosis and management are crucial, as standard therapies can slow disease progression.

Keywords:
AngiokeratomaX-linkedgenetic diseaseheart diseasesphingolipidsstroke

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

2.8K
Author Spotlight: Advancing Tendon Research by Developing Mouse Assembloids to Understand Cellular Mechanisms
08:32

Author Spotlight: Advancing Tendon Research by Developing Mouse Assembloids to Understand Cellular Mechanisms

Published on: March 22, 2024

1.9K

Related Experiment Videos

Last Updated: Mar 30, 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

8.7K
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

2.8K
Author Spotlight: Advancing Tendon Research by Developing Mouse Assembloids to Understand Cellular Mechanisms
08:32

Author Spotlight: Advancing Tendon Research by Developing Mouse Assembloids to Understand Cellular Mechanisms

Published on: March 22, 2024

1.9K

Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Neurology

Background:

  • Fabry disease is an X-linked genetic disorder caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency.
  • This deficiency results in the accumulation of glycosphingolipids, causing multi-organ dysfunction and systemic vasculopathy.
  • Fabry disease complications, including stroke, neuropathy, cardiac, and kidney issues, are often clinically indistinguishable from common disorders, leading to underdiagnosis.

Purpose of the Study:

  • To review the current understanding of Fabry disease etiology and pathogenesis.
  • To discuss the diagnostic challenges and the potential for increased incidence due to underdiagnosis.
  • To explore the evolving therapeutic landscape and the role of standard management strategies.

Main Methods:

  • Literature review of recent studies on Fabry disease genetics, clinical manifestations, and therapeutic advancements.
  • Analysis of the mechanisms underlying glycosphingolipid accumulation and its organ-specific effects.
  • Evaluation of the efficacy of both specific and non-specific therapies in managing Fabry disease.

Main Results:

  • GLA gene mutations are the cause of Fabry disease, impacting multiple organ systems.
  • The disease presents with non-specific symptoms, contributing to its underdiagnosis.
  • While specific therapies are emerging, standard medical and surgical treatments remain vital for managing organ dysfunction and slowing disease progression.

Conclusions:

  • Fabry disease is an underdiagnosed condition with significant systemic implications.
  • Understanding the pathogenic mechanisms is key to developing effective treatments.
  • A combination of vigilant monitoring, early diagnosis, and comprehensive management, including standard therapies, is essential for improving patient outcomes.