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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Last uploaded:
April 11, 2018
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| Preferred Name | Metachromatic Leukodystrophy | |
| Synonyms |
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| Definitions |
An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (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 (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12542 |
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| createdDate |
2007-10-05
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| definingCitationURI |
http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm |
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| definition |
An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (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 (MeSH).
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| editorial note | ||
| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasExternalSource | ||
| label |
Metachromatic Leukodystrophy
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| MeshUid |
D007966
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| modifiedDate |
2007-10-05
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| note |
An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (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 (MeSH).
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| preferred label |
Metachromatic Leukodystrophy
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| synonym |
Sulfatide Lipidosis Cerebroside Sulphatase Deficiency Disease Greenfield's Disease Arylsulfatase A Deficiency Disease
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| subClassOf |
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