The disease was first described in 1963 in France by Dr. Maroteaux and Dr. Lamy. Maroteaux-Lamy Syndrome babies develop normally during the two years, but as the mucopolysaccharides start to build up, the symptoms begin to appear in the third year of life. The major features of this disease are skeletal and cardiac problems. Physical manifestations of the disease include coarse featured faces, thick nostrils and lips, dwarfism, and claw hand deformities. Other symptoms may include carpal tunnel syndrome, curvature of the spine, frequent runny nose, groin hernias, and hearing loss.
Most patients die between age ten and twenty-five of heart failure.
Because Maroteaux-Lamy Syndrome is genetic, it is difficult to cure. For Maroteaux-Lamy Syndrome patients, a variety of treatments have been tried. The goal of treatment is to get the missing enzyme into the body. Unfortunately directly injecting arylsulfatase B into the bloodstream has proven unsuccessful, since the enzyme cannot make it from there to the brain. Injecting arylsulfatase B directly into the brain has not worked either, because not enough of the enzyme is absorbed.