Lysosomal Storage Disease Program

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Boston Children's Hospital's Lysosomal Storage Disorder Program is a multidisciplinary program that diagnoses and treats children and adults with known or suspected lysosomal storage disorders—inherited diseases that occur when one or more of a child's lysosomal enzymes is either missing or not working correctly.

Without lysosomal enzymes, which are important in digestion and waste removal in cells, harmful substances can build up in a child's body and cause developmental delay, intellectual disability, enlargement of the liver and spleen, joint restrictions, coarse facial features and heart problems. More than 50 known lysosomal storage disorders are known, including mucopolysaccharidoses, Gaucher disease and Tay Sachs disease.

Boston Children's established the Lysosomal Storage Disorder Program in 2003 to focus specifically on the treatment of these rare disorders.

Why Boston Children’s Hospital?

Care for lysosomal storage disorders is often fragmented, since they cause many different kinds of symptoms. We offer integrated, multidisciplinary inpatient and outpatient care for these conditions, including access to practitioners in genetics, metabolism, cardiology, otolaryngology, hematology, neurology, orthopedics and physiotherapy to address each child’s specific symptoms and needs. We also provide advanced diagnostics through a collaboration with the Department of Laboratory Medicine and access to clinical trials of the latest drugs.

In addition to diagnosing and treating these disorders, we maintain close ties with a number of 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.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944