Mucolipidoses

"Mucolipidoses" 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

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)

Descriptor ID	D009081
MeSH Number(s)	C05.116.198.371 C10.228.140.163.100.435.590 C16.320.565.189.435.590 C16.320.565.202.670 C16.320.565.595.554.590 C18.452.132.100.435.590 C18.452.648.189.435.590 C18.452.648.202.670 C18.452.648.595.554.590
Concept/Terms	Mucolipidoses Mucolipidoses Sialidosis Sialidoses Mucolipidosis Type I Mucolipidosis Type I Mucolipidosis Mucolipidoses, Type I Mucolipidosis, Type I Type I Mucolipidoses Glycoprotein Neuraminidase Deficiency Deficiencies, Glycoprotein Neuraminidase Deficiency, Glycoprotein Neuraminidase Glycoprotein Neuraminidase Deficiencies Cherry Red Spot-Myoclonus Syndrome Myoclonus-Cherry Red Spot Syndrome Mucolipidosis Type I Mucolipidosis I Cherry Red Spot Myoclonus Syndrome Myoclonus Cherry Red Spot Syndrome Mucolipidosis Type 1 Type III Mucolipidosis Type III Mucolipidosis Mucolipidoses, Type III Mucolipidosis, Type III Type III Mucolipidoses Mucolipidosis III Pseudo-Hurler Polydystrophy Polydystrophy, Pseudo-Hurler Pseudo Hurler Polydystrophy Mucolipidosis IIIa Mucolipidosis III Alpha Beta Mucolipidosis Type III Psuedo-Hurler Disease Psuedo Hurler Disease Psuedo-Hurler Diseases Type IV Mucolipidosis Type IV Mucolipidosis Mucolipidoses, Type IV Mucolipidosis, Type IV Type IV Mucolipidoses Deficiency Disease, Ganglioside Sialidase Ganglioside Sialidase Deficiency Disease Sialolipidosis Sialolipidoses Mucolipidosis Type IV Mucolipidosis IV Lipomucopolysaccharidosis Lipomucopolysaccharidosis Lipomucopolysaccharidoses Type II Mucolipidosis Type II Mucolipidosis Mucolipidoses, Type II Mucolipidosis, Type II Type II Mucolipidoses I-Cell Disease I Cell Disease I-Cell Diseases Mucolipidosis Type II Inclusion Cell Disease Inclusion Cell Diseases Mucolipidosis II

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

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Metabolic [C05.116.198]
Mucolipidoses [C05.116.198.371]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Brain Diseases [C10.228.140]
Brain Diseases, Metabolic [C10.228.140.163]
Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
Mucolipidoses [C10.228.140.163.100.435.590]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
Mucolipidoses [C16.320.565.189.435.590]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Mucolipidoses [C16.320.565.202.670]
Lysosomal Storage Diseases [C16.320.565.595]
Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
Mucolipidoses [C16.320.565.595.554.590]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Brain Diseases, Metabolic [C18.452.132]
Brain Diseases, Metabolic, Inborn [C18.452.132.100]
Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
Mucolipidoses [C18.452.132.100.435.590]
Metabolism, Inborn Errors [C18.452.648]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
Mucolipidoses [C18.452.648.189.435.590]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Mucolipidoses [C18.452.648.202.670]
Lysosomal Storage Diseases [C18.452.648.595]
Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
Mucolipidoses [C18.452.648.595.554.590]

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

publications

Timeline | Most Recent

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

Bar chart showing 7 publications over 5 distinct years, with a maximum of 3 publications in 2005

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

Year	Major Topic	Minor Topic	Total
2002	1	0	1
2005	3	0	3
2009	1	0	1
2016	1	0	1
2020	0	1	1

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

Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 05; 40(6):738-745.

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Kubaski F, Suzuki Y, Orii K, Giugliani R, Church HJ, Mason RW, Dung VC, Ngoc CT, Yamaguchi S, Kobayashi H, Girisha KM, Fukao T, Orii T, Tomatsu S. Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab. 2017 03; 120(3):247-254.

View in: PubMed
Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab. 2010 Feb; 99(2):124-31.

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Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15; 135(3):333.

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Tomatsu S, Gutierrez MA, Ishimaru T, Pe?a OM, Monta?o AM, Maeda H, Velez-Castrillon S, Nishioka T, Fachel AA, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Noguchi A. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005; 28(5):743-57.

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Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, Gutierrez MA, Nishioka T, Fachel AA, Orii KO, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Haskins M, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Okuyama T, Tanaka A, Noguchi A. Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005; 28(2):187-202.

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Leimig T, Mann L, Martin Mdel P, Bonten E, Persons D, Knowles J, Allay JA, Cunningham J, Nienhuis AW, Smeyne R, d'Azzo A. Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. Blood. 2002 May 01; 99(9):3169-78.

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