Maroteaux-Lamy Syndrome

(also known as Mucopolysaccharidosis type VI)

Affecting one in 100,000 people, Maroteaux-Lamy syndrome is a rare genetic disorder where the enzyme (arylsulfatase B), which normally breaks down the mucopolysaccharides dermatan sulfate, is missing.  These mucopolysaccharides build up in all tissues in the body causing progressive deterioration and eventual death.  The disease was first described in 1963 in France by Dr. Maroteaux and Dr. Lamy.

Maroteaux-Lamy syndrome babies develop normally during the first 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.  Unlike many of the other forms of mucopolysaccharidosis, Maroteaux-Lamy children do not experience any mental retardation; most patients have a normal intelligence.  Physical manifestations of the disease include coarse-featured faces, thick nostrils and lips, growth delay, and claw hand deformities.  Patients also have vision problems (due to clouded corneas), and severe heart problems (as the coronary artery narrows and the heart valves thicken).  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. While BMT has been used for the treatment of Maroteaux-Lamy, enzyme therapy is not available which has fewer risks than transplant. As neurologic deterioration due to the affects of the disease on the brain are much less prominent than other disorders, it is a good candidate disease for enzyme therapy. Therefore, the role of transplant is unclear at this time.