Mukopolysackaridos kännetecknad av heparitinsulfat i urinen, fortskridande psykisk funktionsnedsättning, mild kortvuxenhet och andra skelettfel. Det finns fyra former som är omöjliga att särskilja kliniskt, men som biokemiskt är olika, var och en beroende på brist på olika enzym.
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.
MPS III — Sanfilippos syndrom — Sulfamidasbrist
Mucopolysaccharidosis IIIs — Sanfilippo Syndrome — Sanfilippo Syndromes — Syndrome, Sanfilippo — Syndromes, Sanfilippo — Mucopolysaccharidosis 3 — San Filippo's Syndrome — San Filippo Syndrome — San Filippos Syndrome — Syndrome, San Filippo's — Polydystrophic Oligophrenia — Oligophrenia, Polydystrophic — Oligophrenias, Polydystrophic — Polydystrophic Oligophrenias — Sanfilippo's Syndrome — Sanfilippos Syndrome — Syndrome, Sanfilippo's — MPS III D — Mucopolysaccharidosis Type 3 D — Mucopolysaccharidosis Type IIID — Mucopolysaccharidosis Type IIIDs — Sanfilippo Syndrome D — N-Acetylglucosamine-6-Sulfatase Deficiency — Deficiencies, N-Acetylglucosamine-6-Sulfatase — Deficiency, N-Acetylglucosamine-6-Sulfatase — N Acetylglucosamine 6 Sulfatase Deficiency — N-Acetylglucosamine-6-Sulfatase Deficiencies — MPS IIID — MPS IIIDs — MPS 3 D — N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency — Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase — Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase — N Acetylglucosamine 6 Sulfate Sulfatase Deficiency — N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies — Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate — Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate — MPS III C — Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency — Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency — Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies — Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase — Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase — N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide — N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide — Mucopolysaccharidosis Type IIIC — Mucopolysaccharidosis Type IIICs — MPS 3 C — MPS3C — MPS IIIC — Mucopolysaccharidosis Type 3 C — Sanfilippo Syndrome C — MPS III A — MPS 3 A — Mucopolysaccharidosis Type 3 A — Mucopolysaccharidosis Type IIIA — Mucopolysaccharidosis Type IIIAs — Sanfilippo Syndrome A — Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome — Sulfamidase Deficiency — Deficiencies, Sulfamidase — Deficiency, Sulfamidase — Sulfamidase Deficiencies — MPS IIIA — MPS3A — Heparan Sulfate Sulfatase Deficiency — MPS III B — Sanfilippo Syndrome B — MPS3B — Mucopolysaccharidosis Type IIIB — Mucopolysaccharidosis Type IIIBs — NAGLU Deficiency — Deficiencies, NAGLU — Deficiency, NAGLU — NAGLU Deficiencies — N-Acetyl-alpha-D-Glucosaminidase Deficiency — Deficiencies, N-Acetyl-alpha-D-Glucosaminidase — Deficiency, N-Acetyl-alpha-D-Glucosaminidase — N Acetyl alpha D Glucosaminidase Deficiency — N-Acetyl-alpha-D-Glucosaminidase Deficiencies — MPS IIIB — Mucopolysaccharidosis Type 3 B — MPS 3 B