MeSH Browser

MeSH Heading: Leukodystrophy, Metachromatic
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
Unique ID: D007966
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D007966
Scope Note: 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.
Entry Term(s): ARSA Deficiency; Arylsulfatase A Deficiency; Arylsulfatase A Deficiency Disease; Cerebral sclerosis, Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Cerebroside Sulphatase Deficiency Disease; Greenfield Disease; Greenfield's Disease; Leukodystrophy, Metachromatic, Adult; Leukodystrophy, Metachromatic, Juvenile; Metachromatic Leukodystrophy; 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; Sulfatide Lipidosis
See Also: Cerebroside-Sulfatase
Public MeSH Note: 1974
History Note: 1974
Date Established: 1974/01/01
Date of Entry: 1999/01/01
Revision Date: 2021/07/01

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Adrenoleukodystrophy [C10.228.140.163.100.362.250]
        
        Alexander Disease [C10.228.140.163.100.362.312]
        
        Canavan Disease [C10.228.140.163.100.362.375]
        
        Leukodystrophy, Globoid Cell [C10.228.140.163.100.362.500]
        
        Leukodystrophy, Metachromatic [C10.228.140.163.100.362.550]
        
        Pelizaeus-Merzbacher Disease [C10.228.140.163.100.362.775]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]
        
        Sulfatidosis [C10.228.140.163.100.435.825.850]
        
        Leukodystrophy, Metachromatic [C10.228.140.163.100.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C10.228.140.163.100.435.825.850.750]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Leukoencephalopathies [C10.228.140.695]
      - Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
        
        Adrenoleukodystrophy [C10.228.140.695.625.250]
        
        Alexander Disease [C10.228.140.695.625.312]
        
        Canavan Disease [C10.228.140.695.625.375]
        
        Leukodystrophy, Globoid Cell [C10.228.140.695.625.500]
        
        Leukodystrophy, Metachromatic [C10.228.140.695.625.550]
        
        Pelizaeus-Merzbacher Disease [C10.228.140.695.625.775]

Nervous System Diseases [C10]
- Demyelinating Diseases [C10.314]
  - Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
        
        Adrenoleukodystrophy [C16.320.565.189.362.250]
        
        Alexander Disease [C16.320.565.189.362.312]
        
        Canavan Disease [C16.320.565.189.362.375]
        
        Leukodystrophy, Globoid Cell [C16.320.565.189.362.500]
        
        Leukodystrophy, Metachromatic [C16.320.565.189.362.550]
        
        Pelizaeus-Merzbacher Disease [C16.320.565.189.362.775]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Sphingolipidoses [C16.320.565.189.435.825]
        
        Sulfatidosis [C16.320.565.189.435.825.850]
        
        Leukodystrophy, Metachromatic [C16.320.565.189.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.189.435.825.850.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lipid Metabolism, Inborn Errors [C16.320.565.398]
      - Lipidoses [C16.320.565.398.641]
        
        Sphingolipidoses [C16.320.565.398.641.803]
        
        Sulfatidosis [C16.320.565.398.641.803.925]
        
        Leukodystrophy, Metachromatic [C16.320.565.398.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.398.641.803.925.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Sphingolipidoses [C16.320.565.595.554.825]
        
        Sulfatidosis [C16.320.565.595.554.825.850]
        
        Leukodystrophy, Metachromatic [C16.320.565.595.554.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.595.554.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
        
        Adrenoleukodystrophy [C18.452.132.100.362.250]
        
        Alexander Disease [C18.452.132.100.362.312]
        
        Canavan Disease [C18.452.132.100.362.375]
        
        Leukodystrophy, Globoid Cell [C18.452.132.100.362.500]
        
        Leukodystrophy, Metachromatic [C18.452.132.100.362.550]
        
        Pelizaeus-Merzbacher Disease [C18.452.132.100.362.775]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Sphingolipidoses [C18.452.132.100.435.825]
        
        Sulfatidosis [C18.452.132.100.435.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.132.100.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.132.100.435.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Lipid Metabolism Disorders [C18.452.584]
    - Lipid Metabolism, Inborn Errors [C18.452.584.563]
      - Lipidoses [C18.452.584.563.641]
        
        Sphingolipidoses [C18.452.584.563.641.803]
        
        Sulfatidosis [C18.452.584.563.641.803.925]
        
        Leukodystrophy, Metachromatic [C18.452.584.563.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.584.563.641.803.925.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
        
        Adrenoleukodystrophy [C18.452.648.189.362.250]
        
        Alexander Disease [C18.452.648.189.362.312]
        
        Canavan Disease [C18.452.648.189.362.375]
        
        Leukodystrophy, Globoid Cell [C18.452.648.189.362.500]
        
        Leukodystrophy, Metachromatic [C18.452.648.189.362.550]
        
        Pelizaeus-Merzbacher Disease [C18.452.648.189.362.775]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Sphingolipidoses [C18.452.648.189.435.825]
        
        Sulfatidosis [C18.452.648.189.435.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.648.189.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.189.435.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lipid Metabolism, Inborn Errors [C18.452.648.398]
      - Lipidoses [C18.452.648.398.641]
        
        Sphingolipidoses [C18.452.648.398.641.803]
        
        Sulfatidosis [C18.452.648.398.641.803.925]
        
        Leukodystrophy, Metachromatic [C18.452.648.398.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.398.641.803.925.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Sphingolipidoses [C18.452.648.595.554.825]
        
        Sulfatidosis [C18.452.648.595.554.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.648.595.554.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.595.554.825.850.750]

Leukodystrophy, Metachromatic Preferred

Concept UI: M0012416
Scope Note: 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.
Terms: Leukodystrophy, Metachromatic Preferred Term
Term UI T023746
Date01/01/1999
LexicalTag NON
ThesaurusID; Arylsulfatase A Deficiency Disease
Term UI T368960
Date11/03/1999
LexicalTag NON
ThesaurusID; Cerebroside Sulphatase Deficiency Disease
Term UI T368961
Date11/03/1999
LexicalTag NON
ThesaurusID; Sulfatide Lipidosis
Term UI T368968
Date11/03/1999
LexicalTag NON
ThesaurusID; Metachromatic Leukoencephalopathy
Term UI T751425
Date05/18/2009
LexicalTag NON
ThesaurusID; Cerebral sclerosis, Diffuse, Metachromatic Form
Term UI T751426
Date05/18/2009
LexicalTag NON
ThesaurusID; Metachromatic Leukodystrophy
Term UI T811706
Date11/15/2011
LexicalTag NON
ThesaurusID

Leukodystrophy, Metachromatic, Adult Narrower

Leukodystrophy, Metachromatic, Juvenile Narrower

Metachromatic Leukodystrophy, Infant Narrower

Arylsulfatase A Deficiency Narrower

Leukodystrophy, Metachromatic MeSH Descriptor Data 2025