6. Management of LSDs


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How should the pediatrician manage these? There are now several modalities to treat lysosomal storage disease, which makes the diagnosis even more important. They really need to identify these because there is treatment available right now. These are not lethal diseases anymore, and even the ones that cannot be readily treated we can improve the quality of life so much more than we did before. Enzyme replacement therapy, substrate reduction therapy, hematopoietic stem cell therapy, pharmacological chaperone therapy, gene therapy and also preventive and supportive therapy can all be used to treat these patients.

 

 

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