http://purl.uniprot.org/keywords/478 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |