Related Experiment Video
Updated: Apr 4, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.7K
[Gaucher Disease]
1Center for Lysosomal Storage Disease, National Center for Child Health and Development.
Brain and Nerve = Shinkei Kenkyu No Shinpo
|September 3, 2015
Summary
Gaucher disease, a genetic disorder from glucocerebrosidase deficiency, has three main types. Effective treatments include enzyme replacement, substrate reduction, chemical chaperones, and stem cell transplantation.
Area of Science:
- Biochemistry
- Genetics
- Lysosomal Storage Disorders
Context:
- Gaucher disease is an inherited metabolic disorder.
- It results from a deficiency in the enzyme glucocerebrosidase.
- The condition is classified into three distinct types based on clinical presentation.
Purpose:
- To provide an overview of Gaucher disease.
- To discuss current and potential therapeutic strategies.
Summary:
- Gaucher disease is an autosomal recessive disorder stemming from a congenital deficit of lysosomal glucocerebrosidase.
- It is categorized into three primary types.
- Therapeutic options encompass enzyme replacement therapy, substrate reduction therapy, chemical chaperone therapy, and hematopoietic stem cell transplantation.
Impact:
- Highlights the multifaceted treatment landscape for Gaucher disease.
- Informs clinicians and researchers about diverse therapeutic avenues.
- Emphasizes the importance of targeted therapies for lysosomal storage disorders.
Related Concept Videos
01:27Glucose Transporters
28.3K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.3K
01:22Lysosomal Hydrolases
4.8K
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,...
4.8K
01:26Diseases of the Liver and Gallbladder
2.3K
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
2.3K
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
01:17Gastritis-II: Pathophysiology
1.8K
Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
1.8K
01:05Proteoglycans
5.2K
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
5.2K