Metachromatic Leukodystrophy

An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

Also Known As:

Sulfatide Lipidosis; Leukodystrophy, Metachromatic; ARSA Deficiency; Arylsulfatase A Deficiency; Cerebral sclerosis, Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Greenfield Disease; Greenfield's Disease; Leukodystrophy, Metachromatic, Adult; Leukodystrophy, Metachromatic, Juvenile; Metachromatic Leukodystrophy, Adult; Metachromatic Leukodystrophy, Adult-Type; Metachromatic Leukodystrophy, Infant; Metachromatic Leukodystrophy, Infant-Type; Metachromatic Leukodystrophy, Juvenile; Metachromatic Leukodystrophy, Juvenile-Type; Metachromatic Leukodystrophy, Late Infantile; Metachromatic Leukoencephalopathy; ARSA Deficiencies; Adult Metachromatic Leukodystrophies; Adult Metachromatic Leukodystrophy; Adult-Type Metachromatic Leukodystrophies; Adult-Type Metachromatic Leukodystrophy; Arylsulfatase A Deficiencies; Cerebroside Sulfatase Deficiencies; Deficiencies, ARSA; Deficiencies, Arylsulfatase A; Deficiencies, Cerebroside Sulfatase; Deficiency, ARSA; Deficiency, Arylsulfatase A; Deficiency, Cerebroside Sulfatase; Infant Metachromatic Leukodystrophies; Infant Metachromatic Leukodystrophy; Infant-Type Metachromatic Leukodystrophies; Infant-Type Metachromatic Leukodystrophy; Juvenile Metachromatic Leukodystrophies; Juvenile Metachromatic Leukodystrophy; Juvenile-Type Metachromatic Leukodystrophies; Juvenile-Type Metachromatic Leukodystrophy; Leukodystrophies, Adult Metachromatic; Leukodystrophies, Adult-Type Metachromatic; Leukodystrophies, Juvenile Metachromatic; Leukodystrophies, Juvenile-Type Metachromatic; Leukodystrophies, Metachromatic; Leukodystrophy, Adult Metachromatic; Leukodystrophy, Adult-Type Metachromatic; Leukodystrophy, Juvenile Metachromatic; Leukodystrophy, Juvenile-Type Metachromatic; Leukoencephalopathies, Metachromatic; Leukoencephalopathy, Metachromatic; Lipidosis, Sulfatide; Metachromatic Leukodystrophies; Metachromatic Leukodystrophies, Adult; Metachromatic Leukodystrophies, Adult-Type; Metachromatic Leukodystrophies, Infant; Metachromatic Leukodystrophies, Infant-Type; Metachromatic Leukodystrophies, Juvenile; Metachromatic Leukodystrophies, Juvenile-Type; Metachromatic Leukodystrophy, Adult Type; Metachromatic Leukodystrophy, Infant Type; Metachromatic Leukodystrophy, Juvenile Type; Metachromatic Leukoencephalopathies; Sulfatase Deficiencies, Cerebroside; Sulfatase Deficiency, Cerebroside; Arylsulfatase A Deficiency Disease; Cerebroside Sulphatase Deficiency Disease

Nervous System Diseases: 14737
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Metachromatic Leukodystrophy: 718
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 718
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 718
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
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
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 718
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 718
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 718
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 718

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Drug/Important Bio-Agent (IBA)