Metachromatic leukodystrophy
cv_term_accession
KW-0478
canonical
uniprot_keyword
KW-0478
canonical
name
Metachromatic leukodystrophy
uniprot
synonym
Metachromatic leucodystrophy
uniprot
definition
Protein which, if defective, causes metachromatic leukodystrophy, a disease characterized by intralysosomal or myelin membrane storage of cerebroside-3-sulfate. Whereas storage occurs in many cells, the disease almost exclusively affects oligodendrocytes. Patients suffer from a progressive demyelination, which causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures and spastic tetraparesis.
uniprot
keywords
is_obsolete
false
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keywords
ontology_id
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uniprot
keywords