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Mucopolysaccharide disorders in orthopaedic surgery.
1Seattle Children's Hospital, WA, USA.
The Journal of the American Academy of Orthopaedic Surgeons
|January 3, 2013
Summary
Mucopolysaccharidoses (MPS) are genetic disorders causing skeletal deformities. While new treatments extend lifespan, orthopaedic surgeons must manage persistent musculoskeletal issues and surgical needs in MPS patients.
Area of Science:
- Orthopaedics
- Genetics
- Metabolic Disorders
Background:
- Mucopolysaccharidoses (MPS) are inherited metabolic disorders.
- Characterized by glycosaminoglycan accumulation due to enzyme deficiencies.
- Prominent skeletal abnormalities are a hallmark of MPS.
Purpose of the Study:
- To highlight the role of orthopaedic surgeons in diagnosing MPS.
- To discuss the impact of medical therapies on skeletal deformities.
- To outline surgical management strategies for MPS-related musculoskeletal conditions.
Main Methods:
- Review of clinical presentation and musculoskeletal abnormalities in MPS.
- Analysis of radiographic findings associated with MPS.
- Discussion of surgical interventions for specific MPS-related conditions.
Main Results:
- Medical therapies improve lifespan but not skeletal deformities.
- Skeletal abnormalities are early and prominent features.
- Various conditions require surgical management, including spinal instability and hip dysplasia.
Conclusions:
- Orthopaedic surgeons play a crucial role in early MPS diagnosis.
- Surgical intervention is often necessary for managing MPS-related skeletal deformities.
- A thorough understanding of MPS is essential for effective patient care.
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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.
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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.
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