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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Leukodystrophy metachromatic | |
| Synonyms |
MLD |
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| Definitions |
(MLD) - A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset - late-infantile, juvenile and adult. |
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| ID |
http://identifiers.org/omim/250100 |
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| altLabel |
MLD
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| definition |
(MLD) - A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset - late-infantile, juvenile and adult.
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| id |
OMIM:250100
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| notation |
OMIM:250100
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| prefLabel |
Leukodystrophy metachromatic
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| subClassOf |
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