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

Taormino Family

by pattyburkholdertaormino published 15 days ago One comment

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...

Jonah Wood Weishaar MPSIIIC

by jillwood published 12 days ago No comment

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...