MPS-III PDF Print E-mail
Written by cdutcher   
Thursday, 03 May 2012 19:25


MPS III (Sanfilippo syndrome)


MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, who was one of the doctors in the United States who described the condition in 1963.

What causes this disease?

\ Children with MPS III are missing an enzyme which is essential inbreaking downthe used mucopolysaccharides called heparan sulfate.

Are there different forms of this disease?

To date, four different enzyme deficiencies have been found to cause MPS III, described as type A, B, C or D.

There is usually very little difference between the four types of the disease, but there have been some very mild cases of the B form where the affected individuals have remained relatively healthy into adult life.

How common are these diseases?

The incidence of MPS III (all four types combined) is estimated to be 1 in 70,000 births. Type A is the most common one in Northwestern Europe, type B in Southeastern Europe, and types C and D are rare everywhere.

How is the disease inherited?

MPS III is caused by a recessive gene. The only way is if two individuals carrying the gene reproduce and then the offspring has a ¼ chance of being born with it.

Is there a cure?

No cure at this time or positive form of treatment.



Last Updated on Thursday, 17 May 2012 18:34
Would you have a child if there was a 50% chance they would have a severe medical disorder?
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Christopher Dutcher