Mucopolysaccharidoses & Mucolipidoses Treatment

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.

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, Radiology, Stem Cell Transplant on treatment plans for our patients. Supportive staff members are available to assist patients and families with their medical, emotional and social needs.

Prenatal diagnosis is available for all MPS and ML disorders. Amniocentesis (a procedure in which amniotic fluid is taken from around the fetus) can be used to obtain fetal cells which are then cultured and used for enzyme analysis or genetic testing by DNA analysis. In addition, chorionic villus sampling (the extraction of a small sample of tissue from the developing placenta) can be performed in the first trimester of pregnancy in order to make a diagnosis.

What to Expect

The first step in our care is diagnosis, which typically includes laboratory testing. While there is no cure for MPS or ML, 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 diagnosis, including:

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) has been an exciting new development in the treatment of MPS disorders. ERT is the infusion of man-made enzymes into patients in which a specific enzyme is missing or deficient. 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 relieve 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 in many cases, 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 patients with 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) and ML-II (I-cell disease) 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. Reggie Duerst, MD, leads a stem cell unit which 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.

Our Specialists

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

Make an Appointment

If you’d like to request an appointment with one of our specialists, call 1.800.543.7362 (1.800.KIDS DOC®). You can also request an appointment online.

Philanthropy

Your support is important 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 contact the Ann & Robert H. Lurie Children’s Hospital of Chicago Foundation at foundation@luriechildrens.org, call 312.227.7500 or make a gift today