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Lysosomal Storage Disease
(Glycoprotein Storage Diseases; Mucopolysaccharidoses; MPS)
- Fabry Morquio’s disease—affects the kidney, heart, and skin
- Gaucher disease —affects the spleen and bones, and causes anemia
- Hurler’s syndrome—affects the spleen, liver, joints, and eyes; causes intellectual disability and deafness
- Maroteaux-Larny disease—affects the skin, bones, liver, and spleen
- Niemann-Pick disease —affects the spleen, liver, and lungs
- Pompe disease—affects the liver, heart, and muscle tissue
- Tay-Sachs disease —affects the brain
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- Recurrent infections or hernias
- Developmental delays
- Problems with hearing or sight
- Problems including pain with bones
- Problems with heart
- Dialysis —to remove substances from the blood
- Physical therapy
- 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.
Lysosomal Disease Network http://www.lysosomaldiseasenetwork.org
National MPS Society http://www.mpssociety.org
Canadian Society for Mucopolysaccharide & Related Diseases http://www.mpssociety.ca
Health Canada http://www.hc-sc.gc.ca
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 August 15, 2014.
Lysosomal storage diseases. Children's Hospitals amd Clinics of Minnesota website. Available at: http://www.childrensmn.org/web/services/189101.asp. Accessed August 15, 2014.
Lipid storage disease fact sheet. National Institute of Neurological Disorders an Stroke website. Available at: http://www.ninds.nih.gov/disorders/lipid%5Fstorage%5Fdiseases/detail%5Flipid%5Fstorage%5Fdiseases.htm. Updated April 16, 2014. Accessed August 15, 2014.
Lysosomal storage disorders. National Organization of Rare Disorders website. Available at: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1132/viewFullReport. Updated March 14, 2008. Accessed August 15, 2014.
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.
- Reviewer: Michael Woods, MD
- Review Date: 08/2014
- Update Date: 06/03/2013