Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI)
University of Minnesota Masonic Children’s Hospital is the single largest treatment center for patients with Inherited Metabolic Disorders (IMD), like Maroteaux-Lamy syndrome, in the United States. The care provided is individually tailored to meet the unique needs of each patient and family. Our team of expert health care providers who specialize in IMD, apply leading-edge research developed by University of Minnesota scientists.
Our comprehensive and coordinated care, combined with leading research and long-term follow-up, is one reason the university is a national referral center for diagnosing, monitoring and treating children with Maroteaux-Lamy syndrome.
Maroteaux-Lamy syndrome is a rare genetic disorder in which individuals are missing the enzyme (arylsulfatase-B), which normally breaks down complex sugar molecules called glycosaminoglycans (GAG), also called mucopolysaccharides. As a result, GAG build up in the body causing progressive deterioration and eventual death if left untreated. The disorder was first described in 1963 in France by physicians Pierre Maroteaux, MD and Maurice Emil Joseph Lamy, MD.
Infants with Maroteaux-Lamy syndrome develop normally during their first two years of life, but as the GAG continue to build up, the symptoms begin to appear around age 3. The major features of this disorder are skeletal and cardiac problems. Unlike many other forms of mucopolysaccharidosis, Maroteaux-Lamy children do not experience any cognitive delays.
Children with the disorder may have coarse facial features, thick nostrils and lips, dwarfism, and hand deformities. Patients often 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, a frequent runny nose, inguinal hernias and hearing loss.
Maroteaux-Lamy syndrome affects one in 200,000 people.
In Maroteaux-Lamy syndrome, early detection and treatment is critical. When a child receives a diagnosis, the goal is to begin therapy which most commonly includes enzyme replacement therapy. While transplant has been effective therapy, due to its inherent risks most patients may choose to continue enzyme replacement therapy without transplant.
Because children with Maroteaux-Lamy syndrome have unique medical needs, our comprehensive care team includes world-renowned specialists in BMT, but also includes neurologists, endocrinologists, neuropsychologists, cardiologists and orthopedic specialists. We work together to create an individualized monitoring and treatment plan for each patient.
Blood and Marrow Transplant
A transplant replaces the patient’s enzyme-deficient stem cells with normal donor blood stem cells. The new healthy cells can then produce the missing enzyme. This helps stop the progression of damage to the body.
Montreaux-Lamy syndrome patients have the option of receiving enzyme therapy with or without transplant.
Learn more about what to expect during the transplant process.
While our entire blood and marrow transplant team is involved in the care of our patients, the following providers lead the care and treatment plans for patients with Maroteaux-Lamy syndrome:
We continue to explore ways to effectively treat and improve quality of life for patients with Maroteaux-Lamy syndrome. We also collaborate with other researchers throughout the world, keeping our program at the forefront of Maroteaux-Lamy syndrome care worldwide. Learn more about current research projects here.
Maroteaux-Lamy patients who have previously been treated with an allogeneic transplant may be eligible for a clinical trial at our center in which Naglazyme® will be given weekly for two years. Please visit clinicaltrials.gov for more information.