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.
Also Known As:
Sanfilippo Syndrome; MPS III A; MPS III B; MPS III C; MPS III D; Sanfilippo's Syndrome; Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency; Heparan Sulfate Sulfatase Deficiency; MPS 3 A; MPS 3 B; MPS 3 C; MPS 3 D; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; MPS3A; MPS3B; MPS3C; Mucopolysaccharidosis 3; Mucopolysaccharidosis Type 3 A; Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome; Mucopolysaccharidosis Type 3 B; Mucopolysaccharidosis Type 3 C; Mucopolysaccharidosis Type 3 D; Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type IIIB; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis Type IIID; N-Acetyl-alpha-D-Glucosaminidase Deficiency; N-Acetylglucosamine-6-Sulfatase Deficiency; N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency; NAGLU Deficiency; San Filippo's Syndrome; Sanfilippo Syndrome A; Sanfilippo Syndrome B; Sanfilippo Syndrome C; Sanfilippo Syndrome D; Sulfamidase Deficiency; Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency; Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies; Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase; Deficiencies, N-Acetyl-alpha-D-Glucosaminidase; Deficiencies, N-Acetylglucosamine-6-Sulfatase; Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase; Deficiencies, NAGLU; Deficiencies, Sulfamidase; Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase; Deficiency, N-Acetyl-alpha-D-Glucosaminidase; Deficiency, N-Acetylglucosamine-6-Sulfatase; Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase; Deficiency, NAGLU; Deficiency, Sulfamidase; MPS IIIDs; Mucopolysaccharidosis IIIs; Mucopolysaccharidosis Type IIIAs; Mucopolysaccharidosis Type IIIBs; Mucopolysaccharidosis Type IIICs; Mucopolysaccharidosis Type IIIDs; N Acetyl alpha D Glucosaminidase Deficiency; N Acetylglucosamine 6 Sulfatase Deficiency; N Acetylglucosamine 6 Sulfate Sulfatase Deficiency; N-Acetyl-alpha-D-Glucosaminidase Deficiencies; N-Acetylglucosamine-6-Sulfatase Deficiencies; N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies; N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide; N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide; NAGLU Deficiencies; Oligophrenia, Polydystrophic; Oligophrenias, Polydystrophic; Polydystrophic Oligophrenias; San Filippo Syndrome; San Filippos Syndrome; Sanfilippo Syndromes; Sanfilippos Syndrome; Sulfamidase Deficiencies; Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate; Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate; Syndrome, San Filippo's; Syndrome, Sanfilippo; Syndrome, Sanfilippo's; Syndromes, Sanfilippo; Polydystrophic Oligophrenia