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).
Although undegraded heparan sulfate is the primary stored substrate, glycolipids such as gangliosides are also stored despite no genetic defect in the enzymes associated with their breakdown.
The condition is named for Sylvester Sanfilippo, the pediatrician who first described the disease.
Read more about Sanfilippo Syndrome: Incidence, Pathophysiology, Diagnosis and Natural History, Treatment
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