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