Related Experiment Video
Updated: May 26, 2026
08:51
Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
Published on: June 20, 2025
Overview of the mucopolysaccharidoses
1Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. muenzer@med.unc.edu
Rheumatology (Oxford, England)
|January 3, 2012
Summary
Mucopolysaccharidoses (MPSs) are rare genetic disorders affecting multiple organs. Early recognition by rheumatologists is crucial for timely diagnosis and improved outcomes for patients with these progressive lysosomal storage diseases.
Area of Science:
- Genetics
- Biochemistry
- Rheumatology
Background:
- Mucopolysaccharidoses (MPSs) are rare, inherited lysosomal storage disorders.
- Characterized by progressive, multi-system abnormalities and reduced life expectancy.
- Clinical manifestations include skeletal, joint, airway, cardiac, hearing, and vision issues, with severe forms causing intellectual disability.
Purpose of the Study:
- To provide an overview of MPS clinical features.
- To review current treatment options for MPS.
- To assist rheumatologists in recognizing and diagnosing MPS.
Main Methods:
- Literature review of MPS clinical features.
- Summary of available treatment modalities.
- Focus on the role of rheumatologists in early detection.
Main Results:
- MPSs present with diverse and progressive clinical features.
- Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.
- Skeletal and joint abnormalities are key indicators for rheumatologists.
Conclusions:
- Early diagnosis and treatment of MPS can significantly improve patient outcomes.
- Rheumatologists play a vital role in identifying MPS due to characteristic musculoskeletal involvement.
- Increased awareness among rheumatologists can facilitate prompt diagnosis and referral for MPS patients.
Related Concept Videos
01:05Proteoglycans
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,...
01:23Glycosaminoglycans
Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
01:22Lysosomal 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,...
01:24Oligosaccharide Assembly
Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
Multiple sugar molecules that may or may...
01:26Biosynthesis of Polysaccharides
Polysaccharides such as glycogen and starch are synthesized from nucleoside diphosphate sugars, primarily uridine diphosphate glucose (UDPG) and adenosine diphosphate glucose (ADPG). These activated glucose donors act as key intermediates in carbohydrate metabolism and biosynthesis. UDPG primarily involves glycogen synthesis in animals and many bacteria, while ADPG plays a fundamental role in starch synthesis in plants and certain bacteria.UDPG is formed when glucose-1-phosphate reacts with...
01:14Glycocalyx and its Functions
The glycocalyx is a carbohydrate-rich, fuzzy-appearing layer on the outer surface of the cell membrane. It is highly hydrophilic, because of this it attracts large amounts of water to the cell's surface. This aids the cell's interaction with the watery environment and also helps it to obtain substances dissolved in the water. It is also important for cell identification, self/non-self determination, and embryonic development and is used in cell-to-cell attachments to form tissues.
Components of...
Components of...