Welcome - Sanfilippo Syndrome (MPS III) Community

What is Sanfilippo Syndrome (MPS III) ?

Sanfilippo Syndrome or MPSIII, is one of the 6 mucopolysaccharidoses disorders. MPS disorders are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes. These enzymes are responsible for breaking down the complex carbohydrate-Hepran Sulfate (HS). HS builds up and is stored in the lysosome of the cell, causing catastrophic health problems leading to death.

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Sanfilippo Syndrome (MPS III) Resources

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Latest Member Stories

What is wrong with me?

by ElinFiona published 1 day ago
One comment

Have you ever felt a vacuum moving through your arms and legs, like your inner skin are ripped off? This happened to me January 2016. It was extrem...

Iñaki and his fight against the monster Sanfilippo

by janetteojeda published 6 months ago
3 comments

After several years trying to get pregnant, finally I did, in 2010... 'It will be a very strong boy' the doctor said. And he arrived with those big...