ABSTRACT

Mental deterioration, mild skeletal dysostosis multiplex, and urinary excretion of heparan sulfate. The Sanfilippo disease type A is due to a deficiency of heparan-N-sulfatase, type B to a deficiency of α-N-acetylglucosaminidase, type C to N-acetyl-CoA: α-glucosaminide acetyl transferase, and type D to N-acetylglucosamine-6-sulfatase.