Maroteaux-Lamy Syndrome

Maroteaux-Lamy syndrome is also known as Mucopolysaccharidosis Type VI, arylsulfatase-B deficiency, MPS 6, and polydystrophic dwarfism. It is a congenital condition caused by a deficiency in the enzyme ASRB (arylsulfatase) which is responsible for the breakdown of large sugar molecules called glycosaminoglycans. The physical symptoms become obvious in early childhood; these may include: macrocephaly, hydrocephalus, coarse facial features, heart valve disease, enlarged liver and spleen, and umbilical hernia. The symptoms vary greatly from one patient to another; other symptoms include impaired mobility by 10 years old, delayed or absent puberty, risk of heart failure by 20 to 30 years old, reduced pulmonary function, short stature, learning difficulties, skeletal malformations, clouding of the cornea , sinus infections, ear infections, carpal tunnel syndrome, and gastrointestinal problems. The treatment is generally directed at the specific symptoms. Enzyme replacement therapy is also used to replace the inactive enzyme with a genetically engineered version.

Add flashcard Cite Random