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Boston Children’s – Lysosomal Storage Disease Program (BoLD)

Boston Children’s – Lysosomal Storage Disease Program (BoLD)

300 Longwood Avenue
Boston, Massachusetts, United States
Phone   Web  

The Boston Children’s Lysosomal Storage Disease Program (BoLD) is a multidisciplinary, patient-centered program for children and adults with known lysosomal storage disorders. In addition, the BoLD program is a referral site for all patients with suspected lysosomal storage disorders across the age span.

Lysosomal storage disorders are caused by missing enzymes, leading to a buildup of potentially harmful substances. More than 50 lysosomal storage disorders are known to date, including various subtypes of mucopolysaccharidosis (MPS) such as Hurler syndrome (MPSI), Hunter Syndrome (MPSII), Sanfilippo syndrome (MPSIII A, B, C, and D), and Morquio syndrome (MPSIVA), as well as other lysosomal disorders such as Gaucher disease (types 1, 2 and 3), and various subtypes of mucolipidosis, to name a few. The BoLD program is also one of two sites in Massachusetts for the follow up of positive newborn screening cases identified by the New England newborn screening program to be at risk for MPSI or Pompe disease.

 

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