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Storage Diseases
Penn State Children’s Hospital provides comprehensive
services for patients with metabolic storage diseases such as:
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Genetic diagnosis and counseling
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Enzyme replacement therapy
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Developmental evaluation
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Speech therapy, physical therapy, and occupational therapy
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Allogeneic stem cell transplantation
We also offer orthopedic, cardiac, and ophthalmic expertise
by individuals experienced in treating these disorders. Whether or not a child
is a candidate for a stem cell transplant (SCT), the multi-disciplinary team
approach ensures that every aspect of a patient’s medical condition is
addressed.
The goal of allogeneic stem cell transplantation is to
provide normal levels of deficient enzyme in order to avoid complications which
can affect multiple organ systems. SCT is generally most effective when
performed early in the disease course and may not help for patients with
advanced disease. There are some types of storage diseases that do not respond
to SCT. Consultation with the metabolic storage disease team can help determine
whether your child may benefit from this therapy. For questions, you may
contact us at 717-531-6012.
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