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For more information about research, please call our main office at 412-692-6438.
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Damara Ortiz, MD, FAAP, FACMG, directs the UPMC Children's Lysosomal Storage Disorders (LSD) Program. The program cares for kids with lysosome-related genetic diseases.
The lysosome is essentially your cells' waste recycling system. It contains enzymes that break down all types of large molecules in the cells. These include proteins, nucleic acids, carbs, and fats.
If the lysosome isn't working right, it can cause disease because of a build-up of waste products. There are over 60 diseases that involve lysosomes. Some examples of LSDs include:
Each LSD is rare, but as a group, one happens in about 1 in 5000 births each year. LSDs are present in all populations, but certain groups are more likely to have them.
The genetics department at UPMC Children's Hospital of Pittsburgh follows people with LSD for their whole lives.
The LSD Clinic provides the latest diagnostic tests. The physicians and staff at the clinic confirm the illness, treat it, and support the kids and their families.
The first enzyme replacement therapy was FDA-approved in 1991. Since then, the University of Pittsburgh and UPMC Children's have been a major center working with people with LSDs.
To all our families, the expert doctors and staff at the LSD Clinic offer:
Talking about the best treatment options is key to improving outcomes.
The Division of Genetic and Genomic Medicine at UPMC Children's Hospital of Pittsburgh has an active clinical research program. We work with other genetic programs worldwide to test new treatments for genetic diseases. Learn more about our mitochondrial disease clinical research on our clinical studies list.
To schedule a visit to our clinics, please call 412-692-5070.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.