Mucopolysaccharidosis III

"Mucopolysaccharidosis III" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D009084
MeSH Number(s)	C16.320.565.202.715.650 C16.320.565.595.600.650 C17.300.550.575.650 C18.452.648.202.715.650 C18.452.648.595.600.650
Concept/Terms	Mucopolysaccharidosis III Mucopolysaccharidosis III 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 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 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 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 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

Below are MeSH descriptors whose meaning is more general than "Mucopolysaccharidosis III".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Mucopolysaccharidoses [C16.320.565.202.715]
Mucopolysaccharidosis III [C16.320.565.202.715.650]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis III [C16.320.565.595.600.650]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis III [C17.300.550.575.650]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Mucopolysaccharidoses [C18.452.648.202.715]
Mucopolysaccharidosis III [C18.452.648.202.715.650]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis III [C18.452.648.595.600.650]

Below are MeSH descriptors whose meaning is related to "Mucopolysaccharidosis III".

Below are MeSH descriptors whose meaning is more specific than "Mucopolysaccharidosis III".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Mucopolysaccharidosis III" by people in this website by year, and whether "Mucopolysaccharidosis III" was a major or minor topic of these publications.

Bar chart showing 9 publications over 8 distinct years, with a maximum of 2 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	1	0	1
1999	1	0	1
2000	0	1	1
2017	0	1	1
2018	0	1	1
2020	0	2	2
2022	1	0	1
2024	1	0	1

Below are the most recent publications written about "Mucopolysaccharidosis III" by people in Profiles.

Pan X, Caillon A, Fan S, Khan S, Tomatsu S, Pshezhetsky AV. Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC. Cells. 2024 05 20; 13(10).

View in: PubMed
Pan X, Taherzadeh M, Bose P, Heon-Roberts R, Nguyen ALA, Xu T, Par? C, Yamanaka Y, Priestman DA, Platt FM, Khan S, Fnu N, Tomatsu S, Morales CR, Pshezhetsky AV. Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. J Exp Med. 2022 08 01; 219(8).

View in: PubMed
Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H. Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. Int J Mol Sci. 2020 Mar 16; 21(6).

View in: PubMed
Sawamoto K, ?lvarez Gonz?lez JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. Int J Mol Sci. 2020 Feb 23; 21(4).

View in: PubMed
Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018 09; 125(1-2):44-52.

View in: PubMed
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 07; 121(3):227-240.

View in: PubMed
Iwata S, Sukegawa K, Kokuryu M, Tomatsu S, Kondo N, Iwasa S, Orii T. Glycosaminoglycans in neonatal urine. Arch Dis Child Fetal Neonatal Ed. 2000 Jan; 82(1):F78.

View in: PubMed
Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF. Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A. 1999 Dec 07; 96(25):14505-10.

View in: PubMed
Sukegawa K, Tomatsu S, Kondo N, Orii T. [Mucopolysaccharidosis type III (Sanfilippo syndrome)]. Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):439-41.

View in: PubMed

People

Explore

Similar Concepts

Top Journals

The Thomas Jefferson University web site, its contents and programs, is provided for informational and educational purposes only and is not intended as medical advice nor is it intended to create any physician-patient relationship. Please remember that this information should not substitute for a visit or a consultation with a health care provider. The views or opinions expressed in the resources provided do not necessarily reflect those of Thomas Jefferson University, Thomas Jefferson University Hospital, or the Jefferson Health System or staff.
Please read our Privacy Statement