GM1 Gangliosidosis

An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

Also Known As:

Gangliosidosis GM1; Gangliosidosis, GM1; Adult GM1 Gangliosidosis; Beta-Galactosidase-1 (GLB1) Deficiency; Beta-Galactosidase-1 Deficiency Disease; Beta-Galactosidosis; GLB1 Deficiency; GM1-Gangliosidosis, Type I; GM1-Gangliosidosis, Type II; GM1-Gangliosidosis, Type III; Gangliosidosis G(M1); Gangliosidosis GM1 Type 3; Gangliosidosis GM1, Adult; Gangliosidosis GM1, Infantile; Gangliosidosis GM1, Juvenile; Gangliosidosis GM1, Type 1; Gangliosidosis GM1, Type 2; Gangliosidosis GM1, Type 3; Gangliosidosis Generalized GM1, Type 1; Gangliosidosis, Generalized GM1 Type 2; Gangliosidosis, Generalized GM1, Adult Type; Gangliosidosis, Generalized GM1, Chronic Type; Gangliosidosis, Generalized GM1, Infantile Form; Gangliosidosis, Generalized GM1, Juvenile Type; Gangliosidosis, Generalized GM1, Type 1; Gangliosidosis, Generalized GM1, Type 2; Gangliosidosis, Generalized GM1, Type 3; Gangliosidosis, Generalized GM1, Type I; Gangliosidosis, Generalized GM1, Type II; Gangliosidosis, Generalized GM1, Type III; Generalized Gangliosidosis; Type 3 (Adult) GM1 Gangliosidosis; beta Galactosidase 1 Deficiency; beta Galactosidase Deficiency; beta-Galactosidase Deficiency; beta-Galactosidase-1 Deficiency; Beta Galactosidase 1 Deficiency Disease; Beta Galactosidosis; Deficiencies, GLB1; Deficiency, GLB1; Deficiency, beta Galactosidase; Deficiency, beta-Galactosidase; Deficiency, beta-Galactosidase-1; GM1 Gangliosidosis, Adult; GM1 Gangliosidosis, Type I; GM1 Gangliosidosis, Type II; GM1 Gangliosidosis, Type III; GM1-Gangliosidoses, Type I; GM1-Gangliosidoses, Type II; GM1-Gangliosidoses, Type III; Gangliosidosis, Adult GM1; Infantile Gangliosidosis GM1; Juvenile Gangliosidosis GM1; Type I GM1-Gangliosidoses; Type I GM1-Gangliosidosis; Type II GM1-Gangliosidoses; Type II GM1-Gangliosidosis; Type III GM1-Gangliosidoses; Type III GM1-Gangliosidosis; G(M1) Gangliosidosis

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
        GM1 Gangliosidosis: 353
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM1 Gangliosidosis: 353

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