Discovered in 1963 by Dr. Sylvester Sanfilippo, the disease is categorized as a mucopolysaccharide storage disorder that effects every cell in the body causing developmental delays, memory and speech loss and many, many physical problems. Children with Sanfilippo Syndrome typically appear normal at birth but as storage builds up they begin to lose skills. Most children with Sanfilippo Syndrome only live into their teenage years.

Mucopolysaccharides are long chains of sugar molecules used in many tissues in the body. In healthy bodies, enzymes breakdown the mucopolysaccharides also known as glycosaminoglycans (or GAG).  Each enzyme has a specific function and works in a sequence to breakdown one sugar molecule at a time in a chain.  It is an ongoing process; old GAGs are broken down new ones are created.There are four types of Sanfilippo Syndrome - A,B,C,D.

Individuals with Mucopolysaccharidosis III (MPS III) are missing one of four specific enzymes needed in the breakdown of one of the GAG called heparan sulfate. It is the heparan sulfate that is stored in cells and begins to build up.  Eating more or less sugar will not effect the build up.
The damage from the storage is progressive. There is no cure for this disease.


email me