Mucopolysaccharidosis Type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder characterized by the body’s inability to break down certain large molecules known as glycosaminoglycans (previously called mucopolysaccharides). This inability is due to a deficiency in the enzyme arylsulfatase B. As a result, glycosaminoglycans accumulate in the cells, blood, and connective tissues, leading to progressive damage. The symptoms of MPS VI can vary widely among individuals in terms of both presence and severity.
Symptoms of Mucopolysaccharidosis MPS Type VI
The symptoms of MPS VI typically become apparent in early childhood and may include a wide range of physical and medical issues. It is important to recognize that the severity and combination of symptoms can vary greatly from one individual to another. Common symptoms include:
- Stunted growth, with most individuals reaching a final height significantly below average
- Bone deformities, which may include shorter than normal stature, dysostosis multiplex, and irregular growth of the spine
- Joint stiffness and limited movement
- Heart valve abnormalities, leading to heart disease
- Respiratory problems and reduced lung function
- Clouding of the cornea, which may lead to vision problems
- Hearing loss
- Enlarged liver and spleen (hepatosplenomegaly)
- Coarse facial features, including a broad nose, thick lips, and enlarged head
- Chronic fatigue due to sleep apnea and heart complications
Given the complexity and variety of symptoms associated with MPS VI, a comprehensive approach to diagnosis and management is critical. Early diagnosis is particularly important to manage the symptoms effectively and improve the quality of life for individuals with MPS VI.
Quantitative Blood Test for MPS VI
The Mucopolysaccharidosis MPS Type VI Maroteaux-Lamy Quantitative Blood Test is a critical diagnostic tool for identifying this condition. This test measures the activity of the enzyme arylsulfatase B in the blood. A significantly reduced activity level of this enzyme is indicative of MPS VI. This quantitative blood test is crucial for the accurate diagnosis of MPS VI, facilitating early intervention and management strategies to address the symptoms and complications associated with this condition.
The cost of the Mucopolysaccharidosis MPS Type VI Maroteaux-Lamy Quantitative Blood Test is 380 AED. For more information on the test and to schedule an appointment, please visit DNA Labs UAE.
Conclusion
Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) is a rare but serious condition that requires early diagnosis and comprehensive management to mitigate its symptoms and improve the quality of life for those affected. The MPS VI quantitative blood test plays a pivotal role in diagnosing this condition, offering hope for affected individuals and their families. With a cost of 380 AED, the test is a valuable resource for those seeking answers and support in managing this complex condition.
For further details on this test and other genetic testing services, DNA Labs UAE is committed to providing high-quality, reliable testing and support for individuals and families dealing with genetic disorders. Visit our website to learn more about how we can assist you in your journey towards better health and well-being.
