Sanfilippo Syndrome
Alternate Names : Acetyl-CoA Alpha-Glucosaminide N-Acetyltransferase Deficiency (Type IIIC), Heparan Sulfate Sulfatase Deficiency (Type IIIA), Mucopolysaccharidosis Type III (Subtypes A - B - C - D), N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency (Type IIID), N-Acetylglucosaminidase Deficiency (Type IIIB)
Definition
Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes. Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide.
In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine.
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