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Lysosomal Storage Disease Center

Lysosomes are packets of enzymes or other compounds found within a cell. These structures act as shuttles in the cell, bringing materials back and forth between the cell’s outer covering and within the cell, as well as between other structures inside the cell.  

enzyme replacement test

When lysosomes do not work properly, compounds get stuck inside the lysosomes. This causes certain conditions and diseases.  

Our team of experts at Johns Hopkins works to accurately diagnose these conditions and provide treatment plans tailored to your needs. 

 Conditions we treat include:

  • Gaucher disease
  • Fabry disease
  • Pompe disease
  • Lysosomal storage disease
  • Nine types of mucopolysaccharidoses

Our Team

Experts who treat lysosomal storage disease at Johns Hopkins include specialists in cardiology, nephrology, orthopaedics and neuromuscular disorders.