Mucopolysaccharidosis III

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis III: 496
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis III: 496
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Mucinoses: 170
    - Mucopolysaccharidoses: 1610
      - Mucopolysaccharidosis III: 496
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis III: 496
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis III: 496

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Disease

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Therapy/Procedure