Mucopolysaccharidoses & Mucolipidoses Treatment Program​

Mucopolysaccharidoses (MPS) and Mucolipidoses (ML) Treatment Program provides comprehensive care and assists patients and families in the management of these complex conditions. The program's mission is to maximize the quality of life of our patients by providing outstanding, compassionate care.

 

Conditions We Treat

  • MPS I H/S (Hurler/Scheie syndrome)
  • MPS I H (Hurler disease)
  • MPS I S (Scheie syndrome)
  • MPS II-(Hunter syndrome)
  • MPS III A, B, C, and D (Sanfillipo syndrome)
  • MPS IV A and B (Morquio syndrome)
  • MPS VI (Maroteaux-Lamy syndrome)
  • MPS VII (Sly syndrome)
  • MPS IX (hyaluronidase deficiency)

The Lurie Children's Difference

The multidisciplinary team has extensive experience treating MPS and ML. We create a comfortable environment for the patient and family during treatment. We regularly collaborate with Orthopaedics, ENT, Sleep Medicine, CardiologyRadiologyStem Cell Transplant and other specialties on treatment plans for our patients. Supportive staff members are available to assist patients and families with their medical, emotional and social needs.

What to Expect

The first step in our care is diagnosis, which typically includes laboratory testing. While there is no cure for any of the MPS or ML disorders, we will work with your family to create a treatment plan that addresses the symptoms of the disorder. Various treatment methods may be recommended, depending on the specific diagnosis, including:

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) is the infusion of man-made enzymes into patients who have specific enzyme deficiencies. The goal of ERT is to ease the symptoms of MPS and to treat the underlying enzyme deficiency directly by stopping or slowing the progression of the disorder. ERT does not address the problems that may exist in the central nervous system because it does not cross the blood brain barrier (a membrane that serves as a gatekeeper to prevent substances from entering the brain and/or spinal cord). However, function of other organs and mobility can be improved.

Skeletal Dysplasia Program

Our skeletal dysplasia program is a multidisciplinary service that provides care to patients with disorders that primarily involve the skeletal system, including Morquio syndrome (MPS IV). The program is staffed by a geneticist, orthopaedic surgeon, radiologist, genetic counselors and specially trained orthopedic nurses.

Stem Cell Transplantation

Patients with certain genetic disorders, including the severe form of MPS I (Hurler syndrome) have the option of undergoing stem cell transplantation at Lurie Children's. The Stem Cell Transplant Program is one of the largest pediatric outpatient programs in the nation. The stem cell unit at Lurie Children’s has performed over 700 transplants in pediatric patients. The stem cell unit continues to explore new innovations in transplantation. The state-of-the-art facility allows the stem cell unit to provide all-inclusive care.

Investigational Therapies

Our physicians are investigators in a number of clinical trials of new investigational treatments for the MPS disorders. Depending on the specific diagnosis, these clinical trials may involve delivering enzyme replacement therapy into the central nervous system, gene therapy or the use of innovative drugs with the goal of improving the outcome.

Our Specialists

The program is directed by medical geneticist Barbara K. Burton, MD. Dr. Burton is a Professor of Pediatrics, Northwestern University Feinberg School of Medicine. She is board-certified in medical genetics, clinical and biochemical genetics, and pediatrics.

Appointments

If you'd like to schedule an appointment with one of our specialists, call the Division of Genetics, Birth Defects & Metabolism at 312.227.6120.

Philanthropy

Your support is vital in helping us continue to make a difference in the lives of patients and families. Lurie Children’s relies on philanthropic funding to enhance its programs, services and research for children. To learn more, please e-mail the Ann & Robert H. Lurie Children’s Hospital of Chicago Foundation at foundation@luriechildrens.org or call 312.227.7500