Related Experiment Video
Updated: Mar 26, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.6K
Paediatric Fabry disease.
1Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
Translational Pediatrics
|February 3, 2016
Summary
Fabry disease, a genetic disorder, causes dangerous buildup of fatty substances. Early diagnosis and enzyme replacement therapy in children can prevent severe organ damage and improve outcomes.
Area of Science:
- Biochemistry and Genetics
- Lysosomal Storage Disorders
- Metabolic Pathway Analysis
Background:
- Fabry disease is a rare, X-linked genetic disorder affecting glycosphingolipid metabolism.
- Mutations in the GLA gene lead to alpha-galactosidase A deficiency.
- This deficiency causes globotriaosylceramide (GL3) accumulation in tissues, particularly vascular endothelium.
Purpose of the Study:
- To highlight the importance of early recognition of Fabry disease in childhood.
- To emphasize the clinical manifestations of Fabry disease during childhood.
- To underscore the benefits of timely diagnosis and intervention.
Main Methods:
- Review of clinical presentation and diagnostic challenges in pediatric Fabry disease.
- Analysis of the pathophysiology involving GLA gene mutations and GL3 accumulation.
- Evaluation of the impact of enzyme replacement therapy (ERT) on disease progression.
Main Results:
- Childhood symptoms include neuropathic pain, gastrointestinal issues, and heat intolerance, often leading to diagnostic delays.
- GL3 accumulation results in severe renal, cardiac, and cerebrovascular complications later in life.
- Early ERT can mitigate GL3 buildup, stabilize disease, and prevent irreversible organ damage.
Conclusions:
- Physicians must be vigilant for subtle and non-specific childhood symptoms indicative of Fabry disease.
- Prompt diagnosis is crucial for initiating effective treatment and improving long-term prognosis.
- Early intervention with enzyme replacement therapy is key to managing Fabry disease progression.
More Related Videos
05:56Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
677
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
2.8K
Related Concept Videos
01:22Lysosomal 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
01:20Inborn 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
01:23Cystic 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,...
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
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
327
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
327
01:24Cystic Fibrosis: Management
616
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...
Sinus disease and chronic...
616
01:11Fibril-associated Collagen
3.5K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
3.5K