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Mucolipidoses (Sialidosis)

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)
Also Known As:
Sialidosis; I-Cell Disease; Mucolipidosis; Pseudo-Hurler Polydystrophy; Mucolipidosis I; Mucolipidosis Type IV; Mucolipidosis II; Mucolipidosis III; Lipomucopolysaccharidosis; Mucolipidosis IV; Mucolipidosis Type II; Cherry Red Spot-Myoclonus Syndrome; Deficiency Disease, Ganglioside Sialidase; Glycoprotein Neuraminidase Deficiency; Inclusion Cell Disease; Mucolipidosis III Alpha Beta; Mucolipidosis IIIa; Mucolipidosis Type 1; Mucolipidosis Type I; Mucolipidosis Type III; Myoclonus-Cherry Red Spot Syndrome; Psuedo-Hurler Disease; Sialolipidosis; Type I Mucolipidosis; Type II Mucolipidosis; Type III Mucolipidosis; Type IV Mucolipidosis; Deficiencies, Glycoprotein Neuraminidase; Deficiency, Glycoprotein Neuraminidase; Glycoprotein Neuraminidase Deficiencies; I Cell Disease; I-Cell Diseases; Inclusion Cell Diseases; Lipomucopolysaccharidoses; Mucolipidoses, Type I; Mucolipidoses, Type II; Mucolipidoses, Type III; Mucolipidoses, Type IV; Mucolipidosis, Type I; Mucolipidosis, Type II; Mucolipidosis, Type III; Mucolipidosis, Type IV; Polydystrophy, Pseudo-Hurler; Pseudo Hurler Polydystrophy; Psuedo Hurler Disease; Psuedo-Hurler Diseases; Sialidoses; Sialolipidoses; Type I Mucolipidoses; Type II Mucolipidoses; Type III Mucolipidoses; Type IV Mucolipidoses; Cherry Red Spot Myoclonus Syndrome; Ganglioside Sialidase Deficiency Disease; Myoclonus Cherry Red Spot Syndrome
Networked: 797 relevant articles (11 outcomes, 48 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mucolipidoses (Sialidosis)
2. Neuraminidase 1 deficiency
3. Neuraminidase deficiency with beta-galactosidase deficiency
4. Lysosomal Storage Diseases (Lysosomal Storage Disease)
5. Mucopolysaccharidoses

Experts

1. Braulke, Thomas: 22 articles (12/2021 - 09/2005)
2. Pohl, Sandra: 20 articles (12/2021 - 03/2009)
3. d'Azzo, Alessandra: 13 articles (01/2020 - 06/2002)
4. Flanagan-Steet, Heather: 10 articles (10/2020 - 11/2009)
5. Schweizer, Michaela: 9 articles (12/2021 - 07/2011)
6. Kiselyov, Kirill: 9 articles (01/2020 - 12/2005)
7. Grishchuk, Yulia: 8 articles (01/2022 - 12/2015)
8. Schiffmann, Raphael: 8 articles (10/2021 - 03/2002)
9. Slaugenhaupt, Susan A: 8 articles (01/2020 - 11/2007)
10. Steet, Richard: 8 articles (01/2020 - 11/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucolipidoses:
1. EnzymesIBA
2. Neuraminidase (Sialidase)IBA
3. HydrolasesIBA
4. N-Acetylneuraminic Acid (Sialic Acid)IBA
5. G(M3) GangliosideIBA
6. Cystine (L-Cystine)IBA
7. perampanelIBA
8. 5-Hydroxytryptophan (5 Hydroxytryptophan)IBA
9. Proteins (Proteins, Gene)FDA Link
10. beta-Galactosidase (Lactaid)IBA

Therapies and Procedures

1. Therapeutics
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Continuous Positive Airway Pressure
4. Anesthesia
5. Hematopoietic Stem Cell Transplantation