Lysosomal Storage Disease Program (BoLD)
Address
300 Longwood AvenueBoston, MA 02115
Boston, MA 02115
Summary
Boston Children's Lysosomal Storage Disorder (BoLD) Program is a multidisciplinary, patient centered program for children and adults with known or suspected lysosomal storage disorders. These conditions are typically caused by missing lysosomal enzymes, leading to a build of potentially harmful substances. Symptoms may include developmental delay, intellectual disability, enlargement of the liver and spleen, joint restrictions, coarse facial features and heart problems. More than 50 lysosomal storage disorders are known to date, including mucopolysaccharidoses, Gaucher disease and Tay Sachs disease. Early diagnosis is critical to initiate timely therapy and counsel the family about recurrence risk for future pregnancies.
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