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What is the definition of Mucopolysaccharide?

Mucopolysaccharides are long molecular chains of sugar. They are used by the body in the building of connective tissues. The word 'mucopolysaccharide' can be broken down as follows:

  • 'muco' refers to the thick jelly-like consistency of the molecules

  • 'poly' means many

  • 'saccharide' is a general term for a sugar molecule

What are the effects of Mucopolysaccharide Diseases?

The effects vary from one disease to another. Some individuals may be less severely affected, but for many the diseases cause severe disabilities. In most cases growth is restricted. Some diseases cause progressive mental as well as physical disability. Those diseases causing severe mental disability may also lead to death in childhood.

What is Sanfilippo Syndrome ?

Sanfilippo syndrome is mucopolysaccharide (MPS) disorder also known as MPS type 3. Mucopolysaccharides are long sugar molecules that are constantly used and broken down in the body as cells are built and replaced.

In Sanfilippo syndrome the enzyme that breaks down mucopolysaccharides (called heparan sulfatase) isn't produced properly, so the mucopolysaccharides remain stored in the cells causing progressive damage.

Age of onset is two to six, with two-thirds developing symptoms before their fourth birthday. The disorder usually progresses slowly through three stages, but can be faster in some cases than others.

SYMPTOMS

Initially the baby appears quite normal but starts to fall behind in reaching developmental milestones such walking and talking. Behavioural problems are typical, with hyperactivity, aggressive behaviour, reduced sleep and restlessness. Early progress in language and understanding is lost as the child 'slips backwards' into severe learning disability.

During the second stage, from five to ten years, the difficult behaviour and hyperactivity gets worse. In the third stage, usually after ten, the child slows down, loses motor (movement) skills, balance and coordination and develops ataxia (tremor). There may be physical features such a short stature, an enlarged head and coarse facial features, but many children look normal. Life expectancy is 14 to 20 years.

An estimated one in 85,000 births is affected by Sanfilippo. It's inherited in an autosomal recessive fashion, with males and females being equally affected .

Researchers are currently working on treatments that could halt the progression of the disorder. Please support our cause by donating to the National MPS Society at    www.mpssociety.org.