GM2 Gangliosidoses

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

Also Known As:

GM2 Gangliosidosis; Gangliosidoses GM2; Gangliosidoses, GM2; GM2 Gangliosidose; GM2, Gangliosidoses; Gangliosidose, GM2; Gangliosidosis, GM2; G(M2) Gangliosidoses

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
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
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
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269

Stephanie L Peck Selected Research

Stephanie L Peck Research Topics

Disease

Drug/Important Bio-Agent (IBA)