MPS III - Sanfilippo

sanfilippoSanfilippo Syndrome is also known as MPS III. It takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963.

To date four different enzyme deficiencies have been found to cause Sanfilippo Syndrome and so the condition is described as type A, B, C, or D. These enzymes are:

Sanfilippo A

Heparan-N-sulphatase

Sanfilippo B

a-N-Acetylgucosaminidase

Sanfilippo C

AcetylCoA:N-acetyltransferase

Sanfilippo D

N-Acetylglucosamine 6-sulphatase

There is usually very little difference between the four types of the disorder but there have been some very mild cases of the B form where the affected individuals have remained relatively healthy into adult life. The latest understanding is that some people seem to produce some enzyme activity which helps to slow down the progression of the disorder whilst those with more severe symptoms appear to have no enzyme activity (or function) at all. It is important to understand that all those with Sanfilippo syndrome have the same condition, even if some have a milder form.

The combined incidence of Sanfilippo syndrome is 1 in 66,000, however each of the particular types is rarer again. The Australian prevalence of MPS IIIA is 1 in 114,000, MPS IIIB is 1 in 211,000, MPS IIIC is 1 in 1,407,000 and MPS IIID is 1 in 1,056,000.

More information on MPS III is available from our National Office, including an MPS III syndrome booklet which can be purchased with the attached order form.

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