Multiple Sulfatase Deficiency Disease

An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.

Also Known As:

Mucosulfatidosis; Multiple Sulfatase Deficiency; Sulfatidosis, Juvenile, Austin Type; Juvenile Sulfatidosis; Multiple Sulphatase Deficiency Disease; Sulfatidosis Juvenile, Austin Type; Juvenile Sulfatidoses; Multiple Sulfatase Deficiencies; Sulfatidoses, Juvenile; Sulfatidosis, Juvenile

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
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
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
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Multiple Sulfatase Deficiency Disease: 114

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Disease

Drug/Important Bio-Agent (IBA)