Mucopolysaccharidosis IV

"Mucopolysaccharidosis IV" 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

Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.

Descriptor ID	D009085
MeSH Number(s)	C16.320.565.202.715.655 C16.320.565.595.600.655 C17.300.550.575.655 C18.452.648.202.715.655 C18.452.648.595.600.655
Concept/Terms	Mucopolysaccharidosis IV Mucopolysaccharidosis IV Eccentroosteochondrodysplasia Eccentroosteochondrodysplasias Morquio Disease Disease, Morquio Mucopolysaccharidosis Type IV IV, Mucopolysaccharidosis Type IVs, Mucopolysaccharidosis Type Mucopolysaccharidosis Type IVs Type IV, Mucopolysaccharidosis Type IVs, Mucopolysaccharidosis Morquio's Disease Disease, Morquio's Morquios Disease Morquio's Syndrome Morquios Syndrome Syndrome, Morquio's Mucopolysaccharidosis 4 Eccentro-Osteochondrodysplasia Eccentro Osteochondrodysplasia Eccentro-Osteochondrodysplasias Morquio Syndrome Morquio Syndromes Syndrome, Morquio Syndromes, Morquio Mucopolysaccharidosis Type IV A Mucopolysaccharidosis Type IV A Morquio A Disease Disease, Morquio A Mucopolysaccharidosis Type IVA MPS IV A MPS IVA Galactosamine-6-Sulfatase Deficiency Deficiencies, Galactosamine-6-Sulfatase Deficiency, Galactosamine-6-Sulfatase Galactosamine 6 Sulfatase Deficiency Galactosamine-6-Sulfatase Deficiencies Morquio Syndrome A Syndrome A, Morquio Mucopolysaccharidosis Type IV B Mucopolysaccharidosis Type IV B Morquio Syndrome B Morquio Syndrome, Type B Mucopolysaccharidosis Type IVB Mucopolysaccharidosis Type IVBs Morquio-B Disease Disease, Morquio-B Morquio B Disease MPS IV B MPS IVB Mucopolysaccharidosis 4B Mucopolysaccharidosis 4Bs Morquio B Syndrome Syndrome, Morquio B Morquio's Disease Type B GALNS Deficiency GALNS Deficiency Deficiencies, GALNS Deficiency, GALNS GALNS Deficiencies

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

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 IV [C16.320.565.202.715.655]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis IV [C16.320.565.595.600.655]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis IV [C17.300.550.575.655]
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 IV [C18.452.648.202.715.655]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis IV [C18.452.648.595.600.655]

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

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

publications

Timeline | Most Recent

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

Bar chart showing 89 publications over 26 distinct years, with a maximum of 7 publications in 2014

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

Year	Major Topic	Minor Topic	Total
1996	5	0	5
1997	5	0	5
1998	3	0	3
2000	1	1	2
2001	1	0	1
2003	2	0	2
2004	2	0	2
2005	2	0	2
2006	1	0	1
2007	5	1	6
2008	3	0	3
2009	1	0	1
2010	4	0	4
2011	1	0	1
2012	2	0	2
2013	6	0	6
2014	5	2	7
2015	5	0	5
2016	3	0	3
2018	3	1	4
2019	4	0	4
2020	5	1	6
2021	3	0	3
2022	4	0	4
2023	4	0	4
2024	3	0	3

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

Herre?o-Pach?n AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, ?lvarez JV, Tomatsu S. Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. Hum Gene Ther. 2024 Dec; 35(23-24):955-968.

View in: PubMed
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S. Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model. Hum Gene Ther. 2024 Nov; 35(21-22):917-937.

View in: PubMed
?lvarez JV, Bravo SB, Chantada-V?zquez MP, Pena C, Col?n C, Tomatsu S, Otero-Espinar FJ, Couce ML. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. Int J Mol Sci. 2024 Mar 12; 25(6).

View in: PubMed
Leal AF, Alm?ciga-D?az CJ, Tomatsu S. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks. Int J Mol Sci. 2023 Nov 09; 24(22).

View in: PubMed
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2023 11 03; 14(1):7054.

View in: PubMed
Rintz E, Herre?o-Pach?n AM, Celik B, Nidhi F, Khan S, Benincore-Fl?rez E, Tomatsu S. Bone Growth Induction in Mucopolysaccharidosis IVA Mouse. Int J Mol Sci. 2023 Jun 08; 24(12).

View in: PubMed
Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG. Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. Anesth Analg. 2023 11 01; 137(5):1075-1083.

View in: PubMed
Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, ?lvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S. Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. Int J Mol Sci. 2022 Oct 21; 23(20).

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Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):164-172.

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Bruce IA, Ezg? FS, Kampmann C, Kenis V, Mackenzie W, Stevens B, Walker R, Hendriksz C. Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA. Orphanet J Rare Dis. 2022 03 02; 17(1):91.

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