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Boston Children's Hospital's Lysosomal Storage Program is a multidisciplinary clinic that diagnoses and treats children and adults with known or suspected lysosomal diseases. These inherited diseases occur when one or more of a child's enzymes is either missing or not working correctly. Without these enzymes, harmful substances can build up in a child's body and cause developmental delays and mental impairment. Examples of lysosomal storage disorders are Gaucher disease and Tay Sachs disease.
Boston Children's established the Lysosomal Center for Diagnosis and Treatment, the first treatment center to focus specifically on the treatment of these rare and often fatal diseases, in 2003. The center was established to bring new treatment options for these rare disorders to patients from around the world.
Our center at Boston Children's brings together specialists from different departments, including Genetics, Metabolism, Cardiology and Neurology, to treat your child's specific symptoms and needs.
In addition to diagnosing and treating the disease, we maintain close ties with family support groups that provide families facing similar challenges with additional support and helpful educational information.
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”