Leukodystrophy, Metachromatic
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.
Year introduced: 1974
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Tree Number(s): C10.228.140.163.100.362.550, C10.228.140.163.100.435.825.850.500, C10.228.140.695.625.550, C10.314.400.550, C16.320.565.189.362.550, C16.320.565.189.435.825.850.500, C16.320.565.398.641.803.925.500, C16.320.565.595.554.825.850.500, C18.452.132.100.362.550, C18.452.132.100.435.825.850.500, C18.452.584.563.641.803.925.500, C18.452.648.189.362.550, C18.452.648.189.435.825.850.500, C18.452.648.398.641.803.925.500, C18.452.648.595.554.825.850.500
MeSH Unique ID: D007966
Entry Terms:
- Leukodystrophies, Metachromatic
- Metachromatic Leukodystrophies
- Cerebroside Sulphatase Deficiency Disease
- Metachromatic Leukodystrophy
- Metachromatic Leukoencephalopathy
- Leukoencephalopathies, Metachromatic
- Leukoencephalopathy, Metachromatic
- Metachromatic Leukoencephalopathies
- Cerebral sclerosis, Diffuse, Metachromatic Form
- Arylsulfatase A Deficiency Disease
- Sulfatide Lipidosis
- Lipidosis, Sulfatide
- Leukodystrophy, Metachromatic, Adult
- Metachromatic Leukodystrophy, Adult
- Adult Metachromatic Leukodystrophies
- Adult Metachromatic Leukodystrophy
- Leukodystrophies, Adult Metachromatic
- Leukodystrophy, Adult Metachromatic
- Metachromatic Leukodystrophies, Adult
- Metachromatic Leukodystrophy, Adult-Type
- Adult-Type Metachromatic Leukodystrophies
- Adult-Type Metachromatic Leukodystrophy
- Leukodystrophies, Adult-Type Metachromatic
- Leukodystrophy, Adult-Type Metachromatic
- Metachromatic Leukodystrophies, Adult-Type
- Metachromatic Leukodystrophy, Adult Type
- Metachromatic Leukodystrophy, Infant
- Infant Metachromatic Leukodystrophies
- Infant Metachromatic Leukodystrophy
- Metachromatic Leukodystrophies, Infant
- Greenfield's Disease
- Metachromatic Leukodystrophy, Late Infantile
- Metachromatic Leukodystrophy, Infant-Type
- Infant-Type Metachromatic Leukodystrophies
- Infant-Type Metachromatic Leukodystrophy
- Metachromatic Leukodystrophies, Infant-Type
- Metachromatic Leukodystrophy, Infant Type
- Greenfield Disease
- Arylsulfatase A Deficiency
- Arylsulfatase A Deficiencies
- Deficiencies, Arylsulfatase A
- Deficiency, Arylsulfatase A
- ARSA Deficiency
- ARSA Deficiencies
- Deficiencies, ARSA
- Deficiency, ARSA
- Cerebroside Sulfatase Deficiency
- Cerebroside Sulfatase Deficiencies
- Deficiencies, Cerebroside Sulfatase
- Deficiency, Cerebroside Sulfatase
- Sulfatase Deficiencies, Cerebroside
- Sulfatase Deficiency, Cerebroside
- Leukodystrophy, Metachromatic, Juvenile
- Metachromatic Leukodystrophy, Juvenile
- Juvenile Metachromatic Leukodystrophies
- Juvenile Metachromatic Leukodystrophy
- Leukodystrophies, Juvenile Metachromatic
- Leukodystrophy, Juvenile Metachromatic
- Metachromatic Leukodystrophies, Juvenile
- Metachromatic Leukodystrophy, Juvenile-Type
- Juvenile-Type Metachromatic Leukodystrophies
- Juvenile-Type Metachromatic Leukodystrophy
- Leukodystrophies, Juvenile-Type Metachromatic
- Leukodystrophy, Juvenile-Type Metachromatic
- Metachromatic Leukodystrophies, Juvenile-Type
- Metachromatic Leukodystrophy, Juvenile Type
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