Maroteaux Lamy Syndrome, also known as Mucopolysaccharidosis Type VI (MPS VI), is a rare genetic disorder characterized by the deficiency of an enzyme called arylsulfatase B (ASB). This autosomal recessive condition is part of a group of disorders known as mucopolysaccharidoses, which involve the accumulation of complex sugar molecules called glycosaminoglycans (GAGs) in various tissues and organs of the body.
Individuals with Maroteaux Lamy Syndrome typically experience a wide range of symptoms, which may vary in severity. These can include skeletal abnormalities, such as short stature, joint stiffness, and dysostosis multiplex (abnormal bone development). Additionally, affected individuals may develop cardiac problems, impaired respiratory function, and various ophthalmological conditions. Coarse facial features, hernias, hearing loss, and hepatosplenomegaly (enlarged liver and spleen) are also commonly observed.
Since Maroteaux Lamy Syndrome is a genetic disorder, it is primarily caused by mutations in the ARSB gene located on chromosome 5. The mutation leads to a deficiency or malfunctioning of the arylsulfatase B enzyme, resulting in the buildup of GAGs in different tissues throughout the body.
Currently, there is no cure for Maroteaux Lamy Syndrome. Treatments typically involve managing the various symptoms and improving the quality of life for affected individuals. Enzyme replacement therapy and stem cell transplantation have shown potential benefits in managing the condition, while physical therapy, surgery, medications, and supportive care may be utilized to address the specific complications associated with the disorder. Genetic counseling is also recommended for individuals and families affected by Maroteaux Lamy Syndrome.
