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

More members stories

Latest Member Stories

Rare Disease Day 2015

by RareConnect team published about 1 month ago No comment

Rare Disease Day takes place on the last day of February each year.

The main objective of Rare Disease Day is to raise awareness amongst the gen...

Yoyo's story with Sanfilippo type A

by Kejia_1020 published 12 months ago 12 comments

Dear friends,
My name is Kathy Qin from China, Peking. My sweet angel girl named yoyo was diagnosed with Sanfilippo Syndrome type A in Sep last ye...