Keyword
Metachromatic leukodystrophy
| 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. |
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| Synonyms |
Metachromatic leucodystrophy
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| Category |
› Disease
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