Definition: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Other names Sanfilippo's Syndrome; Polydystrophic Oligophrenia; Syndrome, Sanfilippo's; Syndrome, San Filippo's; Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfat; Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulf; Sanfilippos Syndrome; Sanfilippo Syndrome; San Filippos Syndrome; San Filippo Syndrome; Polydystrophic Oligophrenias; Oligophrenias, Polydystrophic; Oligophrenia, Polydystrophic; NAGLU Deficiencies; N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-G; N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha; N-Acetylglucosamine-6-Sulfate Sulfatase Deficienci; N-Acetyl-alpha-D-Glucosaminidase Deficiencies; N Acetylglucosamine 6 Sulfate Sulfatase Deficiency; N Acetyl alpha D Glucosaminidase Deficiency
