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UPMC Children’s Hospital of Pittsburgh – Center for Rare Disease Therapy

4401 Penn Ave.
Pittsburgh, Pennsylvania, United States
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Hurler syndrome (mucopolysaccharidosis type I) is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs. 

An NIH-funded investigator, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter diseases of the brain. Her program developed the first neuroimaging tool that predicts the progression of leukodystrophies.

What to Expect

If your child has been diagnosed with Hurler syndrome, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.

How Long Should We Expect Our First Visit With the Doctor to Take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a comprehensive evaluation and may be seen by several other doctors and health care professionals in addition to our expert, Maria Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in Rare Disorders.