Mucopolysaccharidosis vi

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare, inherited lysosomal storage disease characterized by the body's inability to properly break down and recycle specific mucopolysaccharides (long chains of sugar molecules). This condition is part of a larger group of diseases known as lysosomal storage disorders.

Etiology

MPS VI is caused by mutations in the ARSB gene, which provides instructions for producing the enzyme arylsulfatase B. This enzyme is responsible for breaking down a specific mucopolysaccharide called dermatan sulfate. In individuals with MPS VI, mutations in the ARSB gene lead to a deficiency or complete lack of arylsulfatase B activity, resulting in the accumulation of dermatan sulfate in various tissues and organs.

Symptoms

The symptoms of MPS VI can vary widely in severity and onset. Common symptoms include short stature, dysostosis multiplex (a specific pattern of skeletal abnormalities), hepatosplenomegaly (enlarged liver and spleen), cardiomyopathy (heart disease), and corneal clouding. Some individuals may also experience hydrocephalus (accumulation of fluid in the brain), sleep apnea, and carpal tunnel syndrome.

Diagnosis

Diagnosis of MPS VI is typically based on clinical examination, urine tests for excess mucopolysaccharides, and enzyme assays to measure the activity of arylsulfatase B. Genetic testing can also be used to identify mutations in the ARSB gene.

Treatment

There is currently no cure for MPS VI. Treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, surgery to address skeletal abnormalities, and enzyme replacement therapy with a synthetic version of arylsulfatase B.

Epidemiology

MPS VI is a rare disease, with an estimated incidence of 1 in 250,000 to 600,000 newborns. It is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.

See also

• Mucopolysaccharidosis
• Lysosomal storage disease
• ARSB
• Arylsulfatase B

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