Concept information
Nervous System Diseases
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
...
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Metabolic Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
...
Central Nervous System Diseases
Brain Diseases
Leukoencephalopathies
Hereditary Central Nervous System Demyelinating Diseases
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
Preferred term
Leukodystrophy, Metachromatic
Type
-
mesh:Descriptor
Definition
- 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.
Broader concept
Entry terms
- Arylsulfatase A Deficiency Disease
- Cerebral sclerosis, Diffuse, Metachromatic Form
- Cerebroside Sulphatase Deficiency Disease
- Metachromatic Leukodystrophy
- Metachromatic Leukoencephalopathy
- Sulfatide Lipidosis
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Déficit en aryl-sulfatase A
-
LDM (Leucodystrophie métachromatique)
-
Maladie de Scholz
URI
http://data.loterre.fr/ark:/67375/JVR-L25DCMW5-3
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