Mucopolysaccharidosis type 6 (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by the deficiency of the enzyme arylsulfatase B (ARSB). This enzyme deficiency leads to the accumulation of dermatan sulfate in the body, affecting multiple organ systems and leading to a wide range of symptoms. Early diagnosis through genetic testing is crucial for managing the condition and improving the quality of life for affected individuals. DNA Labs UAE offers a comprehensive genetic test for the ARSB gene to help in the diagnosis of MPS VI. The cost of the test is 4400 AED. For more information, please visit DNA Labs UAE.
Symptoms of Mucopolysaccharidosis Type 6
Mucopolysaccharidosis type 6 presents a wide array of symptoms that can vary significantly in severity among individuals. Early recognition of these symptoms is vital for timely intervention.
- Growth abnormalities: Affected individuals often exhibit stunted growth, leading to short stature.
- Skeletal abnormalities: Common skeletal issues include dysostosis multiplex, which involves multiple skeletal abnormalities such as thickened bones and joint stiffness.
- Cardiovascular issues: Heart valve abnormalities and hypertension are frequent cardiovascular symptoms associated with MPS VI.
- Respiratory problems: Individuals may experience recurrent respiratory infections and obstructive airway disease due to accumulation of glycosaminoglycans.
- Visual and hearing impairment: Corneal clouding, glaucoma, and hearing loss can occur as a result of glycosaminoglycan accumulation.
- Organomegaly: Enlargement of the liver and spleen (hepatosplenomegaly) is commonly observed in MPS VI patients.
- Neurological issues: While intelligence may remain normal, individuals can face compression of the spinal cord and other neurological symptoms.
Importance of Genetic Testing for MPS VI
Genetic testing plays a crucial role in the diagnosis of MPS VI. Identifying mutations in the ARSB gene confirms the diagnosis and helps in understanding the disease’s progression, enabling tailored treatment plans. Furthermore, genetic testing can provide valuable information for family planning and carrier screening within families.
Cost of ARSB Gene Mucopolysaccharidosis Type 6 Genetic Test
The cost of the ARSB gene test at DNA Labs UAE is 4400 AED. This test is a valuable tool for accurately diagnosing MPS VI, guiding treatment decisions, and offering genetic counseling for affected families.
Early diagnosis and intervention can significantly impact the management of MPS VI. For more information about the ARSB gene mucopolysaccharidosis type 6 genetic test and to schedule a test, visit DNA Labs UAE.
