Question: What are the genetic changes related to mucopolysaccharidosis type VI ?
Answer: Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the ARSB gene reduce or completely eliminate the function of arylsulfatase B. The lack of arylsulfatase B activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of the cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.
Source: GHR

Question: What are the treatments for mucopolysaccharidosis type VI ?
Answer: These resources address the diagnosis or management of mucopolysaccharidosis type VI: - Emory University Lysosomal Storage Disease Center - Genetic Testing Registry: Mucopolysaccharidosis type VI - MedlinePlus Encyclopedia: Mucopolysaccharides - National Institute of Neurological Disorders and Stroke: Mucopolysaccharidoses Fact Sheet - National MPS Society: Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR