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.

Source: participating patient groups visible below

Sanfilippo Syndrome (MPS III) Resources

More members stories

Latest Member Stories

Jonah Wood Weishaar MPSIIIC

by jillwood published about 1 year ago
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Jonah was born in 2008, my husband Jeremy and were ecstatic new parents. Jeremy once said I had no idea that my heart could grow this big.

At J...

Taormino Family

by pattyburkholdertaormino published about 1 year ago

We knew something was not right after about 1.5 - 2 yrs old. Our first thoughts were that the chemo from cancer just prior to conceiving caused dev...