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.
推出的年份: 1974
树号: 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 单一 ID: D007966
进入的组:
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
留言 (0)