ABSTRACT
The features of the patient with Sanfilippo disease usually become somewhat coarse, but often the patient is not recognizable as having a mucopolysaccharidosis. A particularly severe type A disease has been reported from the Cayman Islands. In both types A and B, severe and mild forms of the disease have been reported in the same sibship. The stepwise degradation of heparan sulfate provides the sites for the defects in the various forms of Sanfilippo disease. The defective enzyme in type D Sanfilippo disease is in a-N-acetylglucosamine-6-sulfatase. Intrauterine diagnosis of the affected fetus has been accomplished in types A and B disease through assay of the relevant enzyme in amniotic cells in culture. The dull, rigid facies is a consequence of cerebral deterioration, as contrasted with the local tissue changes of Hurler disease. Some patients may have a mild limitation of joint mobility.
