Mucolipidoses

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

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Metabolic Bone Diseases: 6343
    - Mucolipidoses: 801
Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
    - Inborn Errors Carbohydrate Metabolism
      - Mucolipidoses: 801
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
    - Inborn Errors Carbohydrate Metabolism
      - Mucolipidoses: 801
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801

Stefanie Stahl Selected Research

Stefanie Stahl Research Topics

Disease

Drug/Important Bio-Agent (IBA)