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. Mental retardation 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; Deficiency Disease, Ganglioside Sialidase; Inclusion Cell Disease; Mucolipidosis Type 1; Mucolipidosis Type I; Mucolipidosis Type III; Psuedo-Hurler Disease; Type I Mucolipidosis; Type II Mucolipidosis; Type III Mucolipidosis; Type IV Mucolipidosis; 1, Mucolipidosis Type; 1s, Mucolipidosis Type; Cell Disease, Inclusion; Cell Diseases, Inclusion; Disease, I-Cell; Disease, Inclusion Cell; Disease, Psuedo-Hurler; Diseases, I-Cell; Diseases, Inclusion Cell; Diseases, Psuedo-Hurler; I Cell Disease; I-Cell Diseases; IIIs, Mucolipidosis; Inclusion Cell Diseases; Lipomucopolysaccharidoses; Mucolipidoses, Type I; Mucolipidoses, Type II; Mucolipidoses, Type III; Mucolipidoses, Type IV; Mucolipidosis IIIs; Mucolipidosis IIs; Mucolipidosis IVs; Mucolipidosis Is; Mucolipidosis Type 1s; Mucolipidosis Type IIIs; Mucolipidosis Type IIs; Mucolipidosis Type IVs; Mucolipidosis Type Is; 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; Type 1, Mucolipidosis; Type 1s, Mucolipidosis; 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: 587 relevant articles (8 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mucolipidoses (Sialidosis)
2. Lysosomal Storage Diseases (Lysosomal Storage Disease)
3. Mucopolysaccharidoses
4. GM1 Gangliosidosis (Gangliosidosis GM1)
5. Gaucher Disease (Gaucher's Disease)


1. Braulke, Thomas: 14 articles (08/2015 - 09/2005)
2. Kiselyov, Kirill: 8 articles (01/2014 - 12/2005)
3. Pohl, Sandra: 7 articles (08/2015 - 03/2009)
4. d'Azzo, Alessandra: 7 articles (06/2014 - 06/2002)
5. Otomo, Takanobu: 6 articles (12/2013 - 03/2009)
6. Pshezhetsky, A V: 6 articles (02/2003 - 04/2000)
7. Steet, Richard: 5 articles (01/2015 - 11/2009)
8. Schiffmann, Raphael: 5 articles (01/2014 - 03/2002)
9. Kollmann, Katrin: 5 articles (12/2013 - 01/2010)
10. Pshezhetsky, Alexey V: 5 articles (07/2013 - 01/2002)

Drugs and Biologics

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

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Continuous Positive Airway Pressure
3. Anesthesia
4. Aftercare (After-Treatment)
5. Transplants (Transplant)