Sanfilippo syndrome is a type of mucopolysaccharidosis (MPS), which are lysosomal storage disorders. The lysosome is a compartment within cells that functions as the “garbage collectors,” collecting cellular waste and recycling it.
In lysosomal storage disorders, the lysosome cannot function normally and various toxic materials build up in the cell, causing symptoms of the diseases.
What is MPS?
MPS results from the buildup of large sugar molecules called glycosaminoglycans (GAGs). GAGs are also called mucopolysaccharides, which is where this group of diseases gets its name.
In each type of MPS, a different genetic mutation affects the breakdown of GAGs. Most MPS diseases are progressive, and symptoms vary widely, even for people who have the same type of disease.
What is Sanfilippo syndrome?
Mutations in the GNS, HGSNAT, NAGLU, or SGSH gene can cause Sanfilippo syndrome (also called MPS III). These genes provide the instructions necessary for the cells to make specific enzymes that play a role in the lysosomal clearance of cellular wastes.
How is Sanfilippo syndrome different from other types of MPS?
While Sanfilippo syndrome primarily affects the central nervous system, other types of MPS affect many tissues and organs, and can be caused by mutations in the IDUA, IDS, ARSB, GUSB, and GNPTAB genes that encode for other enzymes important in waste clearance. Like Sanfilippo syndrome, the symptoms can vary between patients, even those with mutations in the same gene.
Doctors can treat most types of MPS with enzyme replacement therapy (ERT). In ERT, patients are given an infusion or tablet to replace the enzyme that is not functioning properly because of their disease. Sanfilippo is harder to treat with ERT because the blood-brain barrier (endothelial cells separating the brain from circulating blood) prevents the transport of the therapy into the brain.
However, there are ERTs for Sanfilippo syndrome that are currently in clinical trials. These treatments will have to be infused into the cerebrospinal fluid, which surrounds the brain and spinal cord, through a port in the spine to reach the central nervous system.
Last updated: May 5, 2020
Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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