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Lysosomal Storage Disease

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by Neff DM

(Glycoprotein Storage Diseases; Mucopolysaccharidoses; MPS)

 

Treatment

Treatment is focused on managing the symptoms caused by the missing enzymes. Specific treatment depends on the enzyme defect that your child has but options may include:
  • Dialysis —to remove substances from the blood
  • Physical therapy
  • Surgery
  • Medication
Other treatments may include:
  • Substrate Synthesis Inhibition Therapy (SSI)—medication that decreases the item that build up in the cells due to missing enzymes.
  • Enzyme Replacement Therapy (ERT)—Working enzymes are delivered through an IV to do the job of the defective enzymes.
  • Stem Cell Transplant— stem cells are transplanted through IV to encourage the body to make the missing enzyme.
 

RESOURCES

Lysosomal Disease Network
http://www.lysosomaldiseasenetwork.org/

National MPS Society
http://www.mpssociety.org/

 

CANADIAN RESOURCES

Canadian Society for Mucopolysaccharide & Related Diseases
http://www.mpssociety.ca/

Health Canada
http://www.hc-sc.gc.ca/

 

References


Lysosomal Storage Disease. American Society of Gene and Cell Therapy website. Available at: http://www.asgct.org/general-public/educational-resources/gene-therapy-and-cell-therapy-for-diseases/lysosomal-storage-diseases . Accessed June 24, 2013.


Lysosomal Storage Disease. Children's Hospitals amd Clinics of Minnesota website. Available at: http://www.childrensmn.org/services/other-programs-and-services/other-programs-and-services-e-l/genetics/lysosomal-storage-disease . Accessed June 24, 2013.


Lipid Storage Disease. National Institute of Neurological Disorders an Stroke website. Available at: http://www.ninds.nih.gov/disorders/lipid%5Fstorage%5Fdiseases/detail%5Flipid%5Fstorage%5Fdiseases.htm . Accessed June 24, 2013.


Lysosomal Storage Disease. National Organization of Rare Diseases website. Available at: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1132/viewFullReport . Accessed June 24, 2013.


Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem. 2010;56(7):1079.


Wynn RF, Wraith JE, Mercer J, et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009;154(4):609.

 

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