Sanfilippo syndrome

What is Sanfilippo syndrome?

Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate (which is found in the extra-cellular matrix and on cell surface glycoproteins).

Questions and answers on "Sanfilippo syndrome"

My 4.5 years old daughter is suffered by MPS-111.--B(Sanfilippo syndrome) . We found it in last week only. The doctor told us that there is no...

doctor1 MD

Thanks for posting your query.
MPS 3 is a genetic disorder in which there is a lack of the enzyme needed to break down the glycosaminoglycan...

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