Diseases

Mucopolysaccharidosis III

Mucopolysaccharidosis characterized by HEPARAN 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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Mucopolysaccharidosis characterized by HEPARAN 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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

83 entry terms
  • Mucopolysaccharidosis 3
  • Polydystrophic Oligophrenia
  • San Filippo's Syndrome
  • Sanfilippo Syndrome
  • Sanfilippo's Syndrome
  • Mucopolysaccharidosis IIIs
  • Oligophrenia, Polydystrophic
  • Oligophrenias, Polydystrophic
  • Polydystrophic Oligophrenias
  • San Filippo Syndrome
  • San Filippos Syndrome
  • Sanfilippo Syndromes
  • Sanfilippos Syndrome
  • Syndrome, San Filippo's
  • Syndrome, Sanfilippo
  • Syndrome, Sanfilippo's
  • Syndromes, Sanfilippo
  • Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
  • Heparan Sulfate Sulfatase Deficiency
  • MPS 3 A
  • MPS 3 B
  • MPS 3 C
  • MPS 3 D
  • MPS III A
  • MPS III B
  • MPS III C
  • MPS III D
  • MPS IIIA
  • MPS IIIB
  • MPS IIIC
  • MPS IIID
  • MPS3A
  • MPS3B
  • MPS3C
  • 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
  • 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 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
  • Sulfamidase Deficiencies
  • Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
  • Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90

MeSH Record

Previous Indexing

  • Carbohydrate Metabolism, Inborn Errors (1966-1976)
  • Mental Retardation (1966-1976)
  • Mucopolysaccharides/metabolism (1966-1974)
  • Mucopolysaccharidosis (1974)

MeSH Hierarchy

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AMA Style

References

  1. National Library of Medicine. Mucopolysaccharidosis III. Medical Subject Headings (MeSH). 2026. Unique ID D009084. http://id.nlm.nih.gov/mesh/2026/D009084
  2. Mucopolysaccharidosis III. In: Wikipedia. https://en.wikipedia.org/wiki/Sanfilippo_syndrome
  3. Mucopolysaccharidosis III. In: Wikidata. https://www.wikidata.org/wiki/Q2200359