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Variant B1 Tay-Sachs Disease

Also Known As:

Tay-Sachs Disease, Variant B1

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Tay-Sachs Disease: 490
        Variant B1 Tay-Sachs Disease: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142

Related Diseases

1.	AB Variant Tay-Sachs Disease
2.	GM2 Gangliosidoses (GM2 Gangliosidosis)
3.	Sandhoff Disease (Sandhoff's Disease)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Variant B1 Tay-Sachs Disease:

1.

Hexosaminidase A (Hex A)IBA

01/25/1991 - "After incorporation of [3H]GD1a-GalNAc into cultured skin fibroblasts from healthy subjects and from patients with different variants of GM2 gangliosidosis, its degradation was found to be strongly attenuated in mutant cells with Hex A deficiencies such as variant B (Tay-Sachs disease), variant B1 and variant 0 (Sandhoff disease), while in cells with variant AB (GM2 activator deficiency), its catabolism was blocked only at the level of GM2. "